chr7-27095695-C-T
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_005522.5(HOXA1):c.218G>A(p.Arg73His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.779 in 1,554,656 control chromosomes in the GnomAD database, including 459,498 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_005522.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
HOXA1 | ENST00000643460.2 | c.218G>A | p.Arg73His | missense_variant | Exon 1 of 2 | NM_005522.5 | ENSP00000494260.2 | |||
HOXA1 | ENST00000355633.5 | c.218G>A | p.Arg73His | missense_variant | Exon 1 of 3 | 1 | ENSP00000347851.5 | |||
HOTAIRM1 | ENST00000495032.1 | n.26+23C>T | intron_variant | Intron 1 of 1 | 5 |
Frequencies
GnomAD3 genomes AF: 0.741 AC: 110959AN: 149828Hom.: 42740 Cov.: 28
GnomAD3 exomes AF: 0.757 AC: 173420AN: 229120Hom.: 64066 AF XY: 0.760 AC XY: 93712AN XY: 123298
GnomAD4 exome AF: 0.783 AC: 1099656AN: 1404714Hom.: 416739 Cov.: 56 AF XY: 0.785 AC XY: 549262AN XY: 699280
GnomAD4 genome AF: 0.740 AC: 111018AN: 149942Hom.: 42759 Cov.: 28 AF XY: 0.746 AC XY: 54622AN XY: 73194
ClinVar
Submissions by phenotype
Bilateral microtia-deafness-cleft palate syndrome Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at