7-47967842-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_004507.4(HUS1):c.724G>T(p.Ala242Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004507.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HUS1 | NM_004507.4 | c.724G>T | p.Ala242Ser | missense_variant | 7/8 | ENST00000258774.10 | |
HUS1 | NM_001363683.2 | c.661G>T | p.Ala221Ser | missense_variant | 7/8 | ||
HUS1 | NR_037917.2 | n.878G>T | non_coding_transcript_exon_variant | 7/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HUS1 | ENST00000258774.10 | c.724G>T | p.Ala242Ser | missense_variant | 7/8 | 1 | NM_004507.4 | P1 | |
HUS1 | ENST00000432325.5 | c.661G>T | p.Ala221Ser | missense_variant | 7/8 | 5 | |||
HUS1 | ENST00000458191.5 | c.661G>T | p.Ala221Ser | missense_variant, NMD_transcript_variant | 7/9 | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 01, 2022 | The c.724G>T (p.A242S) alteration is located in exon 7 (coding exon 7) of the HUS1 gene. This alteration results from a G to T substitution at nucleotide position 724, causing the alanine (A) at amino acid position 242 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.