7-16615892-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_020319.3(ANKMY2):c.383G>T(p.Cys128Phe) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000497 in 1,611,224 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_020319.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ANKMY2 | NM_020319.3 | c.383G>T | p.Cys128Phe | missense_variant | Exon 5 of 10 | ENST00000306999.7 | NP_064715.1 | |
LOC105375169 | XR_007060225.1 | n.222-134C>A | intron_variant | Intron 2 of 4 | ||||
LOC105375169 | XR_007060226.1 | n.222-134C>A | intron_variant | Intron 2 of 4 | ||||
LOC105375169 | XR_007060227.1 | n.81-134C>A | intron_variant | Intron 1 of 3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ANKMY2 | ENST00000306999.7 | c.383G>T | p.Cys128Phe | missense_variant | Exon 5 of 10 | 1 | NM_020319.3 | ENSP00000303570.2 | ||
ANKMY2 | ENST00000628652.1 | c.383G>T | p.Cys128Phe | missense_variant | Exon 5 of 9 | 5 | ENSP00000485738.1 | |||
ANKMY2 | ENST00000447802.3 | n.383G>T | non_coding_transcript_exon_variant | Exon 5 of 11 | 2 | ENSP00000392259.1 | ||||
ENSG00000287799 | ENST00000663260.1 | n.358-134C>A | intron_variant | Intron 3 of 3 |
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152126Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000806 AC: 2AN: 248158Hom.: 0 AF XY: 0.00000745 AC XY: 1AN XY: 134244
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1459098Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 725622
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152126Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74318
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.383G>T (p.C128F) alteration is located in exon 5 (coding exon 5) of the ANKMY2 gene. This alteration results from a G to T substitution at nucleotide position 383, causing the cysteine (C) at amino acid position 128 to be replaced by a phenylalanine (F). 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