1-36172503-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001388490.1(MAP7D1):c.500C>T(p.Ala167Val) variant causes a missense change. The variant allele was found at a frequency of 0.00000138 in 1,448,504 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001388490.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MAP7D1 | NM_001388490.1 | c.500C>T | p.Ala167Val | missense_variant | Exon 4 of 17 | ENST00000474796.2 | NP_001375419.1 | |
MAP7D1 | NM_018067.5 | c.500C>T | p.Ala167Val | missense_variant | Exon 4 of 17 | NP_060537.3 | ||
MAP7D1 | NM_001286366.2 | c.500C>T | p.Ala167Val | missense_variant | Exon 4 of 18 | NP_001273295.1 | ||
MAP7D1 | NM_001286365.2 | c.500C>T | p.Ala167Val | missense_variant | Exon 4 of 16 | NP_001273294.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000819 AC: 2AN: 244254Hom.: 0 AF XY: 0.0000150 AC XY: 2AN XY: 132932
GnomAD4 exome AF: 0.00000138 AC: 2AN: 1448504Hom.: 0 Cov.: 30 AF XY: 0.00000278 AC XY: 2AN XY: 718728
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.500C>T (p.A167V) alteration is located in exon 4 (coding exon 4) of the MAP7D1 gene. This alteration results from a C to T substitution at nucleotide position 500, causing the alanine (A) at amino acid position 167 to be replaced by a valine (V). 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