NM_005581.5:c.714C>T
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6BP7BA1
The NM_005581.5(BCAM):c.714C>T(p.Ala238Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0678 in 1,612,542 control chromosomes in the GnomAD database, including 4,688 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_005581.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
BCAM | NM_005581.5 | c.714C>T | p.Ala238Ala | synonymous_variant | Exon 6 of 15 | ENST00000270233.12 | NP_005572.2 | |
BCAM | NM_001013257.2 | c.714C>T | p.Ala238Ala | synonymous_variant | Exon 6 of 14 | NP_001013275.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0731 AC: 11125AN: 152124Hom.: 457 Cov.: 32
GnomAD3 exomes AF: 0.0842 AC: 20770AN: 246704Hom.: 1147 AF XY: 0.0892 AC XY: 11964AN XY: 134170
GnomAD4 exome AF: 0.0672 AC: 98167AN: 1460300Hom.: 4230 Cov.: 33 AF XY: 0.0710 AC XY: 51582AN XY: 726562
GnomAD4 genome AF: 0.0731 AC: 11136AN: 152242Hom.: 458 Cov.: 32 AF XY: 0.0767 AC XY: 5708AN XY: 74442
ClinVar
Submissions by phenotype
BCAM-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at