chr11-12508639-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_018222.5(PARVA):c.713C>T(p.Thr238Ile) variant causes a missense change. The variant allele was found at a frequency of 0.00000437 in 1,601,802 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_018222.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PARVA | ENST00000334956.15 | c.713C>T | p.Thr238Ile | missense_variant | Exon 7 of 13 | 1 | NM_018222.5 | ENSP00000334008.9 | ||
PARVA | ENST00000528916.1 | c.605C>T | p.Thr202Ile | missense_variant | Exon 7 of 8 | 5 | ENSP00000435860.1 | |||
PARVA | ENST00000533345.5 | n.690C>T | non_coding_transcript_exon_variant | Exon 7 of 8 | 5 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152164Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000411 AC: 1AN: 243446Hom.: 0 AF XY: 0.00000757 AC XY: 1AN XY: 132058
GnomAD4 exome AF: 0.00000414 AC: 6AN: 1449638Hom.: 0 Cov.: 28 AF XY: 0.00000693 AC XY: 5AN XY: 721568
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152164Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74328
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.833C>T (p.T278I) alteration is located in exon 7 (coding exon 7) of the PARVA gene. This alteration results from a C to T substitution at nucleotide position 833, causing the threonine (T) at amino acid position 278 to be replaced by an isoleucine (I). 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