rs61737420
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP4_StrongBP6_Very_StrongBS2
The NM_004568.6(SERPINB6):c.1036G>A(p.Val346Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000753 in 1,614,132 control chromosomes in the GnomAD database, including 7 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_004568.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SERPINB6 | NM_004568.6 | c.1036G>A | p.Val346Ile | missense_variant | 7/7 | ENST00000380539.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SERPINB6 | ENST00000380539.7 | c.1036G>A | p.Val346Ile | missense_variant | 7/7 | 3 | NM_004568.6 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00364 AC: 553AN: 152132Hom.: 3 Cov.: 32
GnomAD3 exomes AF: 0.000943 AC: 237AN: 251354Hom.: 5 AF XY: 0.000604 AC XY: 82AN XY: 135860
GnomAD4 exome AF: 0.000454 AC: 663AN: 1461882Hom.: 4 Cov.: 32 AF XY: 0.000410 AC XY: 298AN XY: 727244
GnomAD4 genome ? AF: 0.00363 AC: 553AN: 152250Hom.: 3 Cov.: 32 AF XY: 0.00345 AC XY: 257AN XY: 74462
ClinVar
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | clinical testing | Invitae | Dec 28, 2023 | - - |
Benign, criteria provided, single submitter | clinical testing | GeneDx | Sep 12, 2019 | - - |
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | Apr 30, 2012 | Val346Ile in Exon 08 of SERPINB6: This variant is not expected to have clinical significance because it has been identified in 1.3% (48/3738) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs61737420). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at