chr6-148343268-G-A
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Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_015278.5(SASH1):c.156+45G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.112 in 1,530,962 control chromosomes in the GnomAD database, including 10,611 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Genomes: 𝑓 0.085 ( 745 hom., cov: 32)
Exomes 𝑓: 0.12 ( 9866 hom. )
Consequence
SASH1
NM_015278.5 intron
NM_015278.5 intron
Scores
2
Clinical Significance
Conservation
PhyloP100: 0.419
Genes affected
SASH1 (HGNC:19182): (SAM and SH3 domain containing 1) This gene encodes a scaffold protein involved in the TLR4 signaling pathway that may stimulate cytokine production and endothelial cell migration in response to invading pathogens. The encoded protein has also been described as a potential tumor suppressor that may negatively regulate proliferation, apoptosis, and invasion of cancer cells, and reduced expression of this gene has been observed in multiple human cancers. Mutations in this gene may be associated with abnormal skin pigmentation in human patients. [provided by RefSeq, Oct 2016]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -14 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.8).
BP6
Variant 6-148343268-G-A is Benign according to our data. Variant chr6-148343268-G-A is described in ClinVar as [Benign]. Clinvar id is 1251256.Status of the report is criteria_provided_single_submitter, 1 stars.
BA1
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.126 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SASH1 | NM_015278.5 | c.156+45G>A | intron_variant | ENST00000367467.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SASH1 | ENST00000367467.8 | c.156+45G>A | intron_variant | 1 | NM_015278.5 | P1 | |||
SASH1 | ENST00000367469.5 | n.75-46866G>A | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.0847 AC: 12886AN: 152118Hom.: 745 Cov.: 32
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GnomAD3 exomes AF: 0.0932 AC: 19023AN: 204200Hom.: 1124 AF XY: 0.0984 AC XY: 11145AN XY: 113258
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GnomAD4 exome AF: 0.115 AC: 158847AN: 1378726Hom.: 9866 Cov.: 27 AF XY: 0.115 AC XY: 78700AN XY: 681938
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GnomAD4 genome AF: 0.0846 AC: 12886AN: 152236Hom.: 745 Cov.: 32 AF XY: 0.0830 AC XY: 6175AN XY: 74438
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ClinVar
Significance: Benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | May 15, 2021 | - - |
Computational scores
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at