chr14-23386369-G-A
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_ModerateBP6BP7BS1BS2
The NM_002471.4(MYH6):c.4905C>T(p.Asn1635Asn) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000796 in 1,614,044 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_002471.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MYH6 | NM_002471.4 | c.4905C>T | p.Asn1635Asn | synonymous_variant | Exon 33 of 39 | ENST00000405093.9 | NP_002462.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000407 AC: 62AN: 152198Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000398 AC: 100AN: 251416Hom.: 0 AF XY: 0.000397 AC XY: 54AN XY: 135902
GnomAD4 exome AF: 0.000837 AC: 1223AN: 1461846Hom.: 0 Cov.: 71 AF XY: 0.000803 AC XY: 584AN XY: 727226
GnomAD4 genome AF: 0.000407 AC: 62AN: 152198Hom.: 0 Cov.: 32 AF XY: 0.000403 AC XY: 30AN XY: 74350
ClinVar
Submissions by phenotype
not provided Uncertain:1Benign:5
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not specified Benign:3
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Asn1635Asn in exon 33 of MYH6: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 1/7020 European Ame rican chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washingto n.edu/EVS; dbSNP rs143048583). Asn1635Asn in exon 33 of MYH6 (rs143048583; alle le frequency = 1/7020) ** -
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Hypertrophic cardiomyopathy 14 Benign:1
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Cardiovascular phenotype Benign:1
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at