chr6-35455856-A-G
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBP6_Very_Strong
The NM_021922.3(FANCE):c.358A>G(p.Ile120Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000917 in 1,614,142 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 16/22 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_021922.3 missense
Scores
Clinical Significance
Conservation
Publications
- Fanconi anemia complementation group EInheritance: AR Classification: DEFINITIVE, STRONG Submitted by: Labcorp Genetics (formerly Invitae), ClinGen, G2P
- Fanconi anemiaInheritance: AR Classification: SUPPORTIVE Submitted by: Orphanet
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ACMG classification
Our verdict: Benign. The variant received -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000591 AC: 9AN: 152160Hom.: 0 Cov.: 33 show subpopulations
GnomAD2 exomes AF: 0.000219 AC: 55AN: 251404 AF XY: 0.000294 show subpopulations
GnomAD4 exome AF: 0.0000951 AC: 139AN: 1461864Hom.: 1 Cov.: 65 AF XY: 0.000146 AC XY: 106AN XY: 727230 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.0000591 AC: 9AN: 152278Hom.: 0 Cov.: 33 AF XY: 0.0000940 AC XY: 7AN XY: 74460 show subpopulations
Age Distribution
ClinVar
Submissions by phenotype
Ovarian cancer Benign:1
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Fanconi anemia complementation group E Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at