rs371295955
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001368397.1(FRMPD4):c.3523G>A(p.Asp1175Asn) variant causes a missense change. The variant allele was found at a frequency of 0.000105 in 1,210,190 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 41 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. D1175H) has been classified as Uncertain significance.
Frequency
Consequence
NM_001368397.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FRMPD4 | NM_001368397.1 | c.3523G>A | p.Asp1175Asn | missense_variant | 16/17 | ENST00000675598.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FRMPD4 | ENST00000675598.1 | c.3523G>A | p.Asp1175Asn | missense_variant | 16/17 | NM_001368397.1 | P2 |
Frequencies
GnomAD3 genomes AF: 0.0000803 AC: 9AN: 112079Hom.: 0 Cov.: 23 AF XY: 0.000117 AC XY: 4AN XY: 34243
GnomAD3 exomes AF: 0.0000327 AC: 6AN: 183422Hom.: 0 AF XY: 0.0000442 AC XY: 3AN XY: 67866
GnomAD4 exome AF: 0.000107 AC: 118AN: 1098057Hom.: 0 Cov.: 32 AF XY: 0.000102 AC XY: 37AN XY: 363413
GnomAD4 genome AF: 0.0000803 AC: 9AN: 112133Hom.: 0 Cov.: 23 AF XY: 0.000117 AC XY: 4AN XY: 34307
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Genetic Services Laboratory, University of Chicago | Mar 18, 2014 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at