rs11578466
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_021958.4(HLX):c.1160C>G(p.Ala387Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.131 in 1,613,906 control chromosomes in the GnomAD database, including 15,283 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 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 nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_021958.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HLX | NM_021958.4 | c.1160C>G | p.Ala387Gly | missense_variant | 4/4 | ENST00000366903.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HLX | ENST00000366903.8 | c.1160C>G | p.Ala387Gly | missense_variant | 4/4 | 1 | NM_021958.4 | P1 | |
HLX | ENST00000427693.1 | c.359C>G | p.Ala120Gly | missense_variant | 4/4 | 3 | |||
HLX | ENST00000549319.2 | n.4967C>G | non_coding_transcript_exon_variant | 1/1 |
Frequencies
GnomAD3 genomes ? AF: 0.118 AC: 17975AN: 152014Hom.: 1212 Cov.: 32
GnomAD3 exomes AF: 0.119 AC: 29826AN: 249994Hom.: 2237 AF XY: 0.121 AC XY: 16411AN XY: 135238
GnomAD4 exome AF: 0.132 AC: 192697AN: 1461774Hom.: 14072 Cov.: 33 AF XY: 0.131 AC XY: 95398AN XY: 727186
GnomAD4 genome ? AF: 0.118 AC: 17976AN: 152132Hom.: 1211 Cov.: 32 AF XY: 0.114 AC XY: 8514AN XY: 74380
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at