NM_006005.3:c.2385G>A
Variant summary
Our verdict is Likely benign. The variant received -6 ACMG points: 0P and 6B. BP4_StrongBP6BP7
The NM_006005.3(WFS1):c.2385G>A(p.Glu795Glu) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000496 in 1,612,434 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_006005.3 synonymous
Scores
Clinical Significance
Conservation
Publications
- Wolfram-like syndromeInheritance: AD, AR Classification: DEFINITIVE, STRONG, SUPPORTIVE Submitted by: PanelApp Australia, Labcorp Genetics (formerly Invitae), G2P, Genomics England PanelApp, Ambry Genetics, ClinGen, Orphanet
- Wolfram syndromeInheritance: AR Classification: DEFINITIVE, SUPPORTIVE Submitted by: Orphanet, ClinGen
- autosomal dominant nonsyndromic hearing loss 6Inheritance: AD Classification: STRONG Submitted by: Labcorp Genetics (formerly Invitae)
- cataract 41Inheritance: AD Classification: STRONG Submitted by: Labcorp Genetics (formerly Invitae)
- Wolfram syndrome 1Inheritance: AR Classification: STRONG Submitted by: PanelApp Australia, Labcorp Genetics (formerly Invitae), Genomics England PanelApp
- autosomal dominant nonsyndromic hearing lossInheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
- early-onset nuclear cataractInheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
- type 2 diabetes mellitusInheritance: Unknown Classification: LIMITED Submitted by: Labcorp Genetics (formerly Invitae)
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ACMG classification
Our verdict: Likely_benign. The variant received -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
WFS1 | NM_006005.3 | c.2385G>A | p.Glu795Glu | synonymous_variant | Exon 8 of 8 | ENST00000226760.5 | NP_005996.2 | |
WFS1 | NM_001145853.1 | c.2385G>A | p.Glu795Glu | synonymous_variant | Exon 8 of 8 | NP_001139325.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152240Hom.: 0 Cov.: 34 show subpopulations
GnomAD2 exomes AF: 0.00000814 AC: 2AN: 245616 AF XY: 0.00000747 show subpopulations
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1460194Hom.: 0 Cov.: 99 AF XY: 0.00000138 AC XY: 1AN XY: 726382 show subpopulations
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152240Hom.: 0 Cov.: 34 AF XY: 0.0000269 AC XY: 2AN XY: 74374 show subpopulations
ClinVar
Submissions by phenotype
not provided Uncertain:1Benign:2
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at