chr12-6110516-G-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_000552.5(VWF):c.390C>A(p.Ser130=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,892 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. S130S) has been classified as Likely benign.
Frequency
Consequence
NM_000552.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
VWF | NM_000552.5 | c.390C>A | p.Ser130= | synonymous_variant | 5/52 | ENST00000261405.10 | |
VWF | XM_047429501.1 | c.390C>A | p.Ser130= | synonymous_variant | 5/52 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
VWF | ENST00000261405.10 | c.390C>A | p.Ser130= | synonymous_variant | 5/52 | 1 | NM_000552.5 | P1 | |
VWF | ENST00000321023.5 | c.*449C>A | 3_prime_UTR_variant, NMD_transcript_variant | 6/7 | 1 | ||||
VWF | ENST00000538635.5 | n.419C>A | splice_region_variant, non_coding_transcript_exon_variant | 5/6 | 4 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461892Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 727246
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at