1-16017812-T-C
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_014424.5(HSPB7):c.152A>G(p.Asp51Gly) variant causes a missense change. The variant allele was found at a frequency of 0.000535 in 1,613,284 control chromosomes in the GnomAD database, including 7 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. D51N) has been classified as Benign.
Frequency
Consequence
NM_014424.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HSPB7 | NM_014424.5 | c.152A>G | p.Asp51Gly | missense_variant | 1/3 | ENST00000311890.14 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HSPB7 | ENST00000311890.14 | c.152A>G | p.Asp51Gly | missense_variant | 1/3 | 1 | NM_014424.5 | P3 |
Frequencies
GnomAD3 genomes ? AF: 0.00298 AC: 453AN: 152152Hom.: 4 Cov.: 34
GnomAD3 exomes AF: 0.000766 AC: 188AN: 245500Hom.: 1 AF XY: 0.000555 AC XY: 74AN XY: 133334
GnomAD4 exome AF: 0.000281 AC: 410AN: 1461014Hom.: 3 Cov.: 31 AF XY: 0.000242 AC XY: 176AN XY: 726760
GnomAD4 genome ? AF: 0.00297 AC: 453AN: 152270Hom.: 4 Cov.: 34 AF XY: 0.00277 AC XY: 206AN XY: 74454
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Aug 03, 2017 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at