chr17-43095848-T-C

Variant names:

• chr17-43095848-T-C
• rs397509306
• NM_007294.4:c.668A>G

Variant summary

Our verdict is Uncertain significance. The variant received 0 ACMG points: 2P and 2B. PM2 BP4 BP6

The NM_007294.4(BRCA1):​c.668A>G​(p.Lys223Arg) variant causes a missense, splice region change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 2/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. K223E) has been classified as Uncertain significance.

• Frequency: Genomes: not found (cov: 31)
• Consequence: BRCA1 NM_007294.4 missense, splice_region
• Scores: Splicing: ADA: 0.09243
• Clinical Significance: Conflicting classifications of pathogenicity criteria provided, conflicting classifications U:3 B:1 O:1
• Conservation: PhyloP100: 0.972
• Publications: 8 publications found

Genes affected

BRCA1 (HGNC:1100): (BRCA1 DNA repair associated) This gene encodes a 190 kD nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The BRCA1 gene contains 22 exons spanning about 110 kb of DNA. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified. [provided by RefSeq, May 2020]

BRCA1 Gene-Disease associations (from GenCC):

• breast-ovarian cancer, familial, susceptibility to, 1

  Inheritance: AD Classification: DEFINITIVE, STRONG Submitted by: Ambry Genetics, ClinGen, Labcorp Genetics (formerly Invitae), Genomics England PanelApp
• Fanconi anemia, complementation group S

  Inheritance: AR Classification: DEFINITIVE, STRONG, MODERATE, LIMITED Submitted by: G2P, Labcorp Genetics (formerly Invitae), ClinGen, Ambry Genetics
• pancreatic cancer, susceptibility to, 4

  Inheritance: AD Classification: MODERATE Submitted by: Genomics England PanelApp
• hereditary breast ovarian cancer syndrome

  Inheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
• Fanconi anemia

  Inheritance: AR Classification: SUPPORTIVE Submitted by: Orphanet

ACMG classification

Our verdict: Uncertain_significance. The variant received 0 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (MetaRNN=0.32222763).
• BP6: Variant 17-43095848-T-C is Benign according to our data. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658. Variant chr17-43095848-T-C is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 55658.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
BRCA1	NM_007294.4	c.668A>G	p.Lys223Arg	missense_variant, splice_region_variant	Exon 9 of 23	ENST00000357654.9	NP_009225.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
BRCA1	ENST00000357654.9	c.668A>G	p.Lys223Arg	missense_variant, splice_region_variant	Exon 9 of 23	1	NM_007294.4	ENSP00000350283.3

Frequencies

GnomAD3 genomes Cov.: 31

GnomAD4 exome Cov.: 31

GnomAD4 genome Cov.: 31

ClinVar

Significance: Conflicting classifications of pathogenicity

Submissions summary: Uncertain:3 Benign:1 Other:1

Revision: criteria provided, conflicting classifications

Submissions by phenotype

Hereditary cancer-predisposing syndrome Uncertain:2

Feb 16, 2022

Color Diagnostics, LLC DBA Color Health

Significance: Uncertain significance

Review Status: criteria provided, single submitter

Collection Method: clinical testing

This missense variant replaces lysine with arginine at codon 223 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). An RNA study has shown that this variant produces a transcript that results in exon 9 skipping, however, in an incomplete manner (PMID: 23239986). Additionally, there is a naturally-occurring BRCA1 mRNA transcript that lacks exons 8 and 9 that retains BRCA1 activity (PMID: 27008870). This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. -

Oct 23, 2023

Ambry Genetics

Significance: Uncertain significance

Review Status: criteria provided, single submitter

Collection Method: clinical testing

The p.K223R variant (also known as c.668A>G), located in coding exon 8 of the BRCA1 gene, results from an A to G substitution at nucleotide position 668. The lysine at codon 223 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. RNA studies have demonstrated that this alteration results in an incomplete splice defect (Wappenschmidt B et al. PLoS One, 2012 Dec;7:e50800; Ambry internal data); however this variant occurs in an exon that is absent in biologically relevant transcripts (Colombo M et al. Hum. Mol. Genet. 2014 Jul;23:3666-80) and the clinical impact of this abnormal splicing is unknown at this time. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. -

Hereditary breast ovarian cancer syndrome Uncertain:1

Jul 31, 2023

Labcorp Genetics (formerly Invitae), Labcorp

Significance: Uncertain significance

Review Status: criteria provided, single submitter

Collection Method: clinical testing

This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 223 of the BRCA1 protein (p.Lys223Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with breast cancer (PMID: 23239986). ClinVar contains an entry for this variant (Variation ID: 55658). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Studies have shown this missense change is associated with skipping of exon 9, but one or more of the resulting mRNA isoform(s) may be naturally occurring (PMID: 23239986). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. -

Breast-ovarian cancer, familial, susceptibility to, 1 Benign:1

May 14, 2024

Myriad Genetics, Inc.

Significance: Likely benign

Review Status: criteria provided, single submitter

Collection Method: clinical testing

This variant is considered likely benign. This variant been observed in trans with a known pathogenic variant in one or more individuals. Compound heterozygosity for pathogenic variants in this gene is generally assumed to result in embryonic lethality. -

Familial cancer of breast Other:1

-

ClinVar Staff, National Center for Biotechnology Information (NCBI)

Significance: not provided

Review Status: no classification provided

Collection Method: literature only

- -

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
AlphaMissense	Benign	0.091
BayesDel_addAF	Pathogenic	0.28	D
BayesDel_noAF	Pathogenic	0.16
CADD	Benign	20
DANN	Uncertain	0.99
DEOGEN2	Benign	0.082	.;T;.;.;.;.;T;.;.;T;.;T;T
Eigen	Benign	0.10
Eigen_PC	Benign	0.047
FATHMM_MKL	Benign	0.21	N
LIST_S2	Benign	0.24	T;T;T;T;T;T;T;T;T;T;T;T;T
M_CAP	Pathogenic	0.72	D
MetaRNN	Benign	0.26	T;T;T;T;T;T;T;T;T;T;T;T;T
MetaSVM	Pathogenic	0.97	D
MutationAssessor	Uncertain	2.0	M;M;M;M;.;M;.;.;.;.;.;.;.
PhyloP100		0.97
PrimateAI	Benign	0.27	T
PROVEAN	Benign	-0.34	N;N;N;N;N;N;N;N;N;N;N;N;N
REVEL	Uncertain	0.54
Sift	Benign	0.76	T;T;T;T;T;T;T;T;T;T;T;T;T
Sift4G	Benign	0.51	T;T;T;T;T;T;.;T;T;D;.;D;.
Polyphen		1.0, 0.99, 0.82	.;D;.;.;.;D;.;.;P;.;.;.;.
Vest4		0.17
MutPred		0.23		Loss of ubiquitination at K223 (P = 0.003);Loss of ubiquitination at K223 (P = 0.003);Loss of ubiquitination at K223 (P = 0.003);Loss of ubiquitination at K223 (P = 0.003);.;Loss of ubiquitination at K223 (P = 0.003);.;.;Loss of ubiquitination at K223 (P = 0.003);Loss of ubiquitination at K223 (P = 0.003);.;Loss of ubiquitination at K223 (P = 0.003);.;
MVP		0.94
MPC		0.30
ClinPred		0.53	D
GERP RS		4.6
RBP_binding_hub_radar		0.0
RBP_regulation_power_radar		1.0
Varity_R		0.057
gMVP		0.16
Mutation Taster		=71/29	polymorphism

Splicing

Name	Calibrated prediction	Score	Prediction
dbscSNV1_ADA	Benign	0.092
dbscSNV1_RF	Benign	0.32
Splicevardb		3.0
SpliceAI score (max)		0.22		Details are displayed if max score is > 0.2
DS_DL_spliceai		0.22		Position offset: -2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs397509306; hg19: chr17-41247865;