17-43125428-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The ENST00000471181.7(BRCA1):c.-177C>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 0.000032 in 374,450 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 Uncertain significance (★).
Frequency
Consequence
ENST00000471181.7 5_prime_UTR_premature_start_codon_gain
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
BRCA1 | NM_001408458.1 | c.-61-9649C>T | intron_variant | Intron 1 of 21 | NP_001395387.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
BRCA1 | ENST00000471181.7 | c.-177C>T | 5_prime_UTR_premature_start_codon_gain_variant | Exon 1 of 24 | 1 | ENSP00000418960.2 | ||||
BRCA1 | ENST00000494123.6 | c.-171C>T | 5_prime_UTR_premature_start_codon_gain_variant | Exon 1 of 23 | 1 | ENSP00000419103.2 | ||||
BRCA1 | ENST00000468300.5 | c.-171C>T | 5_prime_UTR_premature_start_codon_gain_variant | Exon 1 of 22 | 1 | ENSP00000417148.1 |
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152158Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.0000180 AC: 4AN: 222292Hom.: 0 Cov.: 0 AF XY: 0.00000813 AC XY: 1AN XY: 122992
GnomAD4 genome AF: 0.0000526 AC: 8AN: 152158Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74326
ClinVar
Submissions by phenotype
Hereditary breast ovarian cancer syndrome Uncertain:1
This variant occurs in a non-coding region of the BRCA1 gene. It does not change the encoded amino acid sequence of the BRCA1 protein. This variant is present in population databases (no rsID available, gnomAD 0.05%). This variant has been observed in individual(s) with hereditary breast and ovarian cancer syndrome (PMID: 29236234). ClinVar contains an entry for this variant (Variation ID: 2181309). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at