chr4-101895357-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_017935.5(BANK1):āc.956T>Cā(p.Ile319Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000219 in 1,594,910 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. I319V) has been classified as Uncertain significance.
Frequency
Consequence
NM_017935.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BANK1 | NM_017935.5 | c.956T>C | p.Ile319Thr | missense_variant | 6/17 | ENST00000322953.9 | |
BANK1 | NM_001083907.3 | c.866T>C | p.Ile289Thr | missense_variant | 6/17 | ||
BANK1 | NM_001127507.3 | c.557T>C | p.Ile186Thr | missense_variant | 5/16 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BANK1 | ENST00000322953.9 | c.956T>C | p.Ile319Thr | missense_variant | 6/17 | 1 | NM_017935.5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 151944Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000428 AC: 10AN: 233836Hom.: 0 AF XY: 0.0000472 AC XY: 6AN XY: 127144
GnomAD4 exome AF: 0.0000222 AC: 32AN: 1442966Hom.: 0 Cov.: 27 AF XY: 0.0000209 AC XY: 15AN XY: 717960
GnomAD4 genome AF: 0.0000197 AC: 3AN: 151944Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74234
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 12, 2024 | The c.956T>C (p.I319T) alteration is located in exon 6 (coding exon 6) of the BANK1 gene. This alteration results from a T to C substitution at nucleotide position 956, causing the isoleucine (I) at amino acid position 319 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at