rs529972175
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BS1BS2
The NM_001384474.1(LOXHD1):āc.1244T>Gā(p.Val415Gly) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000233 in 1,551,612 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Synonymous variant affecting the same amino acid position (i.e. V415V) has been classified as Likely benign.
Frequency
Consequence
NM_001384474.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LOXHD1 | NM_001384474.1 | c.1244T>G | p.Val415Gly | missense_variant | 9/41 | ENST00000642948.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LOXHD1 | ENST00000642948.1 | c.1244T>G | p.Val415Gly | missense_variant | 9/41 | NM_001384474.1 | P1 | ||
LOXHD1 | ENST00000536736.5 | c.1244T>G | p.Val415Gly | missense_variant | 9/40 | 5 | |||
LOXHD1 | ENST00000441551.6 | c.1244T>G | p.Val415Gly | missense_variant | 9/39 | 5 | |||
LOXHD1 | ENST00000335730.6 | n.557T>G | non_coding_transcript_exon_variant | 2/27 | 2 |
Frequencies
GnomAD3 genomes AF: 0.00116 AC: 176AN: 152114Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000253 AC: 40AN: 158010Hom.: 0 AF XY: 0.000144 AC XY: 12AN XY: 83206
GnomAD4 exome AF: 0.000132 AC: 185AN: 1399380Hom.: 2 Cov.: 31 AF XY: 0.000114 AC XY: 79AN XY: 690194
GnomAD4 genome AF: 0.00116 AC: 176AN: 152232Hom.: 0 Cov.: 32 AF XY: 0.00109 AC XY: 81AN XY: 74446
ClinVar
Submissions by phenotype
not provided Uncertain:1Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 25, 2024 | - - |
Uncertain significance, criteria provided, single submitter | clinical testing | Eurofins Ntd Llc (ga) | Apr 26, 2017 | - - |
Autosomal recessive nonsyndromic hearing loss 77 Uncertain:1
Uncertain significance, no assertion criteria provided | clinical testing | Natera, Inc. | Dec 12, 2019 | - - |
not specified Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | May 15, 2015 | p.Val415Gly in exon 9 of LOXHD1: This variant is not expected to have clinical s ignificance because it has been identified in 0.44% (12/2730) of African chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at