rs747404115
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 1P and 5B. PP2BP4_StrongBS2_Supporting
The NM_000552.5(VWF):āc.77C>Gā(p.Thr26Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000041 in 1,461,834 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_000552.5 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 |
---|---|---|---|---|---|---|---|
VWF | NM_000552.5 | c.77C>G | p.Thr26Ser | missense_variant | 3/52 | ENST00000261405.10 | |
VWF | XM_047429501.1 | c.77C>G | p.Thr26Ser | missense_variant | 3/52 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
VWF | ENST00000261405.10 | c.77C>G | p.Thr26Ser | missense_variant | 3/52 | 1 | NM_000552.5 | P1 | |
VWF | ENST00000321023.5 | c.*136C>G | 3_prime_UTR_variant, NMD_transcript_variant | 4/7 | 1 | ||||
VWF | ENST00000538635.5 | n.106C>G | non_coding_transcript_exon_variant | 3/6 | 4 | ||||
VWF | ENST00000538563.1 | c.*136C>G | 3_prime_UTR_variant, NMD_transcript_variant | 4/4 | 3 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.0000199 AC: 5AN: 250764Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135574
GnomAD4 exome AF: 0.00000410 AC: 6AN: 1461834Hom.: 0 Cov.: 34 AF XY: 0.00000275 AC XY: 2AN XY: 727216
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Quest Diagnostics Nichols Institute San Juan Capistrano | Apr 27, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at