5-135345994-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_138610.3(MACROH2A1):āc.752A>Gā(p.Lys251Arg) variant causes a missense change. The variant allele was found at a frequency of 0.00000205 in 1,460,596 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 (ā ).
Frequency
Consequence
NM_138610.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.0000318 AC: 8AN: 251452Hom.: 0 AF XY: 0.0000442 AC XY: 6AN XY: 135898
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1460596Hom.: 0 Cov.: 29 AF XY: 0.00000138 AC XY: 1AN XY: 726638
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.752A>G (p.K251R) alteration is located in exon 7 (coding exon 6) of the H2AFY gene. This alteration results from a A to G substitution at nucleotide position 752, causing the lysine (K) at amino acid position 251 to be replaced by an arginine (R). 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