ENST00000331733:c.-328C>T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The ENST00000331733(FAM187A):c.-328C>T variant causes a 5 prime UTR premature start codon gain change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000841 in 1,277,138 control chromosomes in the GnomAD database, including 7 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★★).
Frequency
Consequence
ENST00000331733 5_prime_UTR_premature_start_codon_gain
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FAM187A | ENST00000331733 | c.-328C>T | 5_prime_UTR_premature_start_codon_gain_variant | Exon 1 of 1 | 1 | ENSP00000329499.4 | ||||
FAM187A | ENST00000331733 | c.-328C>T | 5_prime_UTR_variant | Exon 1 of 1 | 1 | ENSP00000329499.4 | ||||
GFAP | ENST00000588735 | c.*3845G>A | 3_prime_UTR_variant | Exon 9 of 9 | 1 | NM_002055.5 | ENSP00000466598.2 | |||
CCDC103 | ENST00000417826.3 | c.*685C>T | 3_prime_UTR_variant | Exon 4 of 4 | 1 | NM_213607.3 | ENSP00000391692.2 |
Frequencies
GnomAD3 genomes AF: 0.00422 AC: 643AN: 152194Hom.: 4 Cov.: 32
GnomAD4 exome AF: 0.000381 AC: 429AN: 1124826Hom.: 3 Cov.: 31 AF XY: 0.000352 AC XY: 188AN XY: 533596
GnomAD4 genome AF: 0.00423 AC: 645AN: 152312Hom.: 4 Cov.: 32 AF XY: 0.00416 AC XY: 310AN XY: 74494
ClinVar
Submissions by phenotype
not provided Uncertain:1
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Primary ciliary dyskinesia 17 Uncertain:1
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at