13-31148034-G-C
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_006644.4(HSPH1):āc.1303C>Gā(p.Leu435Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000916 in 1,610,768 control chromosomes in the GnomAD database, including 22 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ā ).
Frequency
Consequence
NM_006644.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
HSPH1 | NM_006644.4 | c.1303C>G | p.Leu435Val | missense_variant | Exon 10 of 18 | ENST00000320027.10 | NP_006635.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
HSPH1 | ENST00000320027.10 | c.1303C>G | p.Leu435Val | missense_variant | Exon 10 of 18 | 1 | NM_006644.4 | ENSP00000318687.5 | ||
HSPH1 | ENST00000602786.5 | n.*831C>G | non_coding_transcript_exon_variant | Exon 9 of 17 | 1 | ENSP00000473512.1 | ||||
HSPH1 | ENST00000602786.5 | n.*831C>G | 3_prime_UTR_variant | Exon 9 of 17 | 1 | ENSP00000473512.1 |
Frequencies
GnomAD3 genomes AF: 0.00249 AC: 378AN: 152034Hom.: 5 Cov.: 31
GnomAD3 exomes AF: 0.00332 AC: 824AN: 248534Hom.: 12 AF XY: 0.00255 AC XY: 343AN XY: 134412
GnomAD4 exome AF: 0.000750 AC: 1094AN: 1458616Hom.: 15 Cov.: 31 AF XY: 0.000660 AC XY: 479AN XY: 725678
GnomAD4 genome AF: 0.00250 AC: 381AN: 152152Hom.: 7 Cov.: 31 AF XY: 0.00312 AC XY: 232AN XY: 74398
ClinVar
Submissions by phenotype
not provided Benign:2
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at