chr1-6452001-G-T
Variant summary
Our verdict is Uncertain significance. The variant received 2 ACMG points: 2P and 0B. PP3_Moderate
The NM_031475.3(ESPN):c.2230G>T(p.Asp744Tyr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000081 in 1,605,250 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic 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. D744N) has been classified as Uncertain significance.
Frequency
Consequence
NM_031475.3 missense
Scores
Clinical Significance
Conservation
Publications
- nonsyndromic genetic hearing lossInheritance: AD, AR Classification: DEFINITIVE, LIMITED Submitted by: ClinGen
- autosomal recessive nonsyndromic hearing loss 36Inheritance: AR, AD Classification: DEFINITIVE, STRONG, MODERATE, LIMITED Submitted by: Ambry Genetics, Labcorp Genetics (formerly Invitae), PanelApp Australia, G2P
- hearing loss, autosomal recessiveInheritance: AR Classification: SUPPORTIVE Submitted by: Orphanet
- Usher syndrome type 1Inheritance: AR Classification: SUPPORTIVE Submitted by: Orphanet
- Usher syndrome, type 1MInheritance: AR, Unknown Classification: LIMITED Submitted by: G2P, Labcorp Genetics (formerly Invitae)
Genome browser will be placed here
ACMG classification
Our verdict: Uncertain_significance. The variant received 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152156Hom.: 0 Cov.: 33 show subpopulations
GnomAD2 exomes AF: 0.0000128 AC: 3AN: 233842 AF XY: 0.0000157 show subpopulations
GnomAD4 exome AF: 0.00000757 AC: 11AN: 1453094Hom.: 0 Cov.: 32 AF XY: 0.00000831 AC XY: 6AN XY: 722260 show subpopulations
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152156Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74308 show subpopulations
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at