2-186636171-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_002210.5(ITGAV):c.721C>T(p.Arg241Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000089 in 1,460,372 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R241Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_002210.5 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 |
---|---|---|---|---|---|---|---|
ITGAV | NM_002210.5 | c.721C>T | p.Arg241Trp | missense_variant | 7/30 | ENST00000261023.8 | |
ITGAV | NM_001145000.3 | c.613C>T | p.Arg205Trp | missense_variant | 5/28 | ||
ITGAV | NM_001144999.3 | c.583C>T | p.Arg195Trp | missense_variant | 7/30 | ||
ITGAV | XM_047444225.1 | c.-123C>T | 5_prime_UTR_variant | 3/26 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ITGAV | ENST00000261023.8 | c.721C>T | p.Arg241Trp | missense_variant | 7/30 | 1 | NM_002210.5 | P2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 250084Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135148
GnomAD4 exome AF: 0.00000890 AC: 13AN: 1460372Hom.: 0 Cov.: 30 AF XY: 0.00000688 AC XY: 5AN XY: 726446
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 14, 2023 | The c.721C>T (p.R241W) alteration is located in exon 7 (coding exon 7) of the ITGAV gene. This alteration results from a C to T substitution at nucleotide position 721, causing the arginine (R) at amino acid position 241 to be replaced by a tryptophan (W). 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