rs115395163
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP6
The NM_001384474.1(LOXHD1):c.1162A>G(p.Ile388Val) variant causes a missense change. The variant allele was found at a frequency of 0.000124 in 1,551,596 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/17 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. I388M) has been classified as Uncertain significance.
Frequency
Consequence
NM_001384474.1 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LOXHD1 | NM_001384474.1 | c.1162A>G | p.Ile388Val | missense_variant | 9/41 | ENST00000642948.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LOXHD1 | ENST00000642948.1 | c.1162A>G | p.Ile388Val | missense_variant | 9/41 | NM_001384474.1 | P1 | ||
LOXHD1 | ENST00000536736.5 | c.1162A>G | p.Ile388Val | missense_variant | 9/40 | 5 | |||
LOXHD1 | ENST00000441551.6 | c.1162A>G | p.Ile388Val | missense_variant | 9/39 | 5 | |||
LOXHD1 | ENST00000335730.6 | n.475A>G | non_coding_transcript_exon_variant | 2/27 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.000598 AC: 91AN: 152124Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000190 AC: 30AN: 158196Hom.: 0 AF XY: 0.000132 AC XY: 11AN XY: 83326
GnomAD4 exome AF: 0.0000729 AC: 102AN: 1399354Hom.: 1 Cov.: 31 AF XY: 0.0000594 AC XY: 41AN XY: 690180
GnomAD4 genome ? AF: 0.000598 AC: 91AN: 152242Hom.: 0 Cov.: 32 AF XY: 0.000457 AC XY: 34AN XY: 74440
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 02, 2021 | The c.1162A>G (p.I388V) alteration is located in exon 9 (coding exon 9) of the LOXHD1 gene. This alteration results from a A to G substitution at nucleotide position 1162, causing the isoleucine (I) at amino acid position 388 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
not specified Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | Feb 02, 2016 | p.Ile388Val in exon 9 of LOXHD1: This variant is not expected to have clinical s ignificance because it has been identified in 0.4% (10/2744) of African chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP rs115395163). - |
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 30, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at