rs1421006567
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_032437.4(EFCAB7):āc.793A>Cā(p.Asn265His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,459,934 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. N265D) has been classified as Uncertain significance.
Frequency
Consequence
NM_032437.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
EFCAB7 | ENST00000371088.5 | c.793A>C | p.Asn265His | missense_variant | Exon 6 of 14 | 1 | NM_032437.4 | ENSP00000360129.4 | ||
EFCAB7 | ENST00000493605.1 | n.184A>C | non_coding_transcript_exon_variant | Exon 2 of 2 | 2 | |||||
EFCAB7 | ENST00000496956.1 | n.73A>C | non_coding_transcript_exon_variant | Exon 1 of 3 | 3 | |||||
ITGB3BP | ENST00000478138.1 | n.198-5019T>G | intron_variant | Intron 1 of 4 | 3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1459934Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 726314
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at