NM_001145004.2:c.1909A>T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001145004.2(GOLGA6L6):c.1909A>T(p.Met637Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 11/16 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001145004.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 40
GnomAD4 exome Cov.: 53
GnomAD4 genome Cov.: 40
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1987A>T (p.M663L) alteration is located in exon 8 (coding exon 8) of the GOLGA6L6 gene. This alteration results from a A to T substitution at nucleotide position 1987, causing the methionine (M) at amino acid position 663 to be replaced by a leucine (L). 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
Publications
No publications associated with this variant yet.