16-75233877-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_014567.5(BCAR1):c.2069G>A(p.Arg690Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000317 in 1,610,010 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
NM_014567.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000164 AC: 25AN: 152164Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000329 AC: 8AN: 242926Hom.: 0 AF XY: 0.0000228 AC XY: 3AN XY: 131622
GnomAD4 exome AF: 0.0000178 AC: 26AN: 1457846Hom.: 0 Cov.: 32 AF XY: 0.0000152 AC XY: 11AN XY: 724728
GnomAD4 genome AF: 0.000164 AC: 25AN: 152164Hom.: 0 Cov.: 32 AF XY: 0.000121 AC XY: 9AN XY: 74330
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2207G>A (p.R736Q) alteration is located in exon 7 (coding exon 6) of the BCAR1 gene. This alteration results from a G to A substitution at nucleotide position 2207, causing the arginine (R) at amino acid position 736 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at