6-136361097-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_003980.6(MAP7):c.1609G>A(p.Glu537Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000144 in 1,604,850 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 (★).
Frequency
Consequence
NM_003980.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000985 AC: 15AN: 152266Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000121 AC: 29AN: 239470Hom.: 0 AF XY: 0.000145 AC XY: 19AN XY: 131416
GnomAD4 exome AF: 0.000149 AC: 216AN: 1452584Hom.: 0 Cov.: 35 AF XY: 0.000148 AC XY: 107AN XY: 723000
GnomAD4 genome AF: 0.0000985 AC: 15AN: 152266Hom.: 0 Cov.: 33 AF XY: 0.0000941 AC XY: 7AN XY: 74394
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1699G>A (p.E567K) alteration is located in exon 12 (coding exon 12) of the MAP7 gene. This alteration results from a G to A substitution at nucleotide position 1699, causing the glutamic acid (E) at amino acid position 567 to be replaced by a lysine (K). 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