rs3113676
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The NM_017935.5(BANK1):c.1948T>A(p.Cys650Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. C650R) has been classified as Likely benign.
Frequency
Consequence
NM_017935.5 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 |
---|---|---|---|---|---|---|---|
BANK1 | NM_017935.5 | c.1948T>A | p.Cys650Ser | missense_variant | 11/17 | ENST00000322953.9 | |
BANK1 | NM_001083907.3 | c.1858T>A | p.Cys620Ser | missense_variant | 11/17 | ||
BANK1 | NM_001127507.3 | c.1549T>A | p.Cys517Ser | missense_variant | 10/16 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BANK1 | ENST00000322953.9 | c.1948T>A | p.Cys650Ser | missense_variant | 11/17 | 1 | NM_017935.5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 0AN: 152024Hom.: 0 Cov.: 31 FAILED QC
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 6.91e-7 AC: 1AN: 1447884Hom.: 0 Cov.: 28 AF XY: 0.00000139 AC XY: 1AN XY: 721078
GnomAD4 genome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 152024Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74250
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at