X-20010987-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001168465.2(MAP7D2):c.2138G>C(p.Gly713Ala) variant causes a missense change. The variant allele was found at a frequency of 0.00000414 in 1,208,424 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 1 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001168465.2 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 |
---|---|---|---|---|---|---|---|---|---|---|
MAP7D2 | ENST00000379643.10 | c.2138G>C | p.Gly713Ala | missense_variant | Exon 16 of 17 | 1 | NM_001168465.2 | ENSP00000368964.5 | ||
MAP7D2 | ENST00000379651.7 | c.2015G>C | p.Gly672Ala | missense_variant | Exon 15 of 16 | 1 | ENSP00000368972.3 | |||
MAP7D2 | ENST00000443379.7 | c.1880G>C | p.Gly627Ala | missense_variant | Exon 14 of 15 | 2 | ENSP00000388239.3 | |||
MAP7D2 | ENST00000452324.3 | c.1859G>C | p.Gly620Ala | missense_variant | Exon 15 of 16 | 2 | ENSP00000413301.3 |
Frequencies
GnomAD3 genomes AF: 0.00000898 AC: 1AN: 111400Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 33618
GnomAD4 exome AF: 0.00000365 AC: 4AN: 1097024Hom.: 0 Cov.: 29 AF XY: 0.00000276 AC XY: 1AN XY: 362404
GnomAD4 genome AF: 0.00000898 AC: 1AN: 111400Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 33618
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2138G>C (p.G713A) alteration is located in exon 16 (coding exon 16) of the MAP7D2 gene. This alteration results from a G to C substitution at nucleotide position 2138, causing the glycine (G) at amino acid position 713 to be replaced by an alanine (A). 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