rs761711033
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 1P and 5B. PP2BP6BS2
The NM_002471.4(MYH6):c.4027G>A(p.Asp1343Asn) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000871 in 1,607,934 control chromosomes in the GnomAD database, including 2 homozygotes. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Synonymous variant affecting the same amino acid position (i.e. D1343D) has been classified as Likely benign.
Frequency
Consequence
NM_002471.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYH6 | NM_002471.4 | c.4027G>A | p.Asp1343Asn | missense_variant | 29/39 | ENST00000405093.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYH6 | ENST00000405093.9 | c.4027G>A | p.Asp1343Asn | missense_variant | 29/39 | 5 | NM_002471.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000264 AC: 4AN: 151402Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000164 AC: 41AN: 250484Hom.: 0 AF XY: 0.000273 AC XY: 37AN XY: 135432
GnomAD4 exome AF: 0.0000934 AC: 136AN: 1456532Hom.: 2 Cov.: 33 AF XY: 0.000131 AC XY: 95AN XY: 724530
GnomAD4 genome AF: 0.0000264 AC: 4AN: 151402Hom.: 0 Cov.: 33 AF XY: 0.0000271 AC XY: 2AN XY: 73894
ClinVar
Submissions by phenotype
Cardiovascular phenotype Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 18, 2023 | The c.4027G>A (p.D1343N) alteration is located in exon 29 (coding exon 27) of the MYH6 gene. This alteration results from a G to A substitution at nucleotide position 4027, causing the aspartic acid (D) at amino acid position 1343 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Hypertrophic cardiomyopathy 14 Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jul 18, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at