NM_007294.4:c.75C>G

Variant names:

• chr17-43124022-G-C
• rs80356839
• NM_007294.4:c.75C>G

Variant summary

Our verdict is Likely benign. The variant received -5 ACMG points: 2P and 7B. PM2 BP4_Strong BP6_Moderate BP7

The NM_007294.4(BRCA1):​c.75C>G​(p.Pro25Pro) variant causes a synonymous 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. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. P25P) has been classified as Likely benign.

• Frequency: Genomes: not found (cov: 32)
• Consequence: BRCA1 NM_007294.4 synonymous
• Clinical Significance: Likely benign criteria provided, single submitter B:1
• Conservation: PhyloP100: -0.455
• Publications: 0 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: Likely_benign. The variant received -5 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.61).
• BP6: Variant 17-43124022-G-C is Benign according to our data. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr17-43124022-G-C is described in CliVar as Likely_benign. Clinvar id is 1125447.Status of the report is criteria_provided_single_submitter, 1 stars.
• BP7: Synonymous conserved (PhyloP=-0.455 with no splicing effect.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
BRCA1	NM_007294.4	c.75C>G	p.Pro25Pro	synonymous_variant	Exon 2 of 23	ENST00000357654.9	NP_009225.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
BRCA1	ENST00000357654.9	c.75C>G	p.Pro25Pro	synonymous_variant	Exon 2 of 23	1	NM_007294.4	ENSP00000350283.3

Frequencies

GnomAD3 genomes Cov.: 32

GnomAD4 exome Cov.: 30

GnomAD4 genome Cov.: 32

ClinVar

Significance: Likely benign

Submissions summary: Benign:1

Revision: criteria provided, single submitter

Submissions by phenotype

Hereditary breast ovarian cancer syndrome Benign:1

Jul 17, 2020

Labcorp Genetics (formerly Invitae), Labcorp

Significance: Likely benign

Review Status: criteria provided, single submitter

Collection Method: clinical testing

- -

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.61
CADD	Benign	7.1
DANN	Benign	0.69
PhyloP100		-0.46
RBP_binding_hub_radar		0.0
RBP_regulation_power_radar		1.7

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

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

Other links and lift over

dbSNP: rs80356839; hg19: chr17-41276039;