NM_000820.4:c.1640A>C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_000820.4(GAS6):c.1640A>C(p.Lys547Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000820.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GAS6 | ENST00000327773.7 | c.1640A>C | p.Lys547Thr | missense_variant | Exon 13 of 15 | 1 | NM_000820.4 | ENSP00000331831.6 | ||
GAS6 | ENST00000480426.5 | n.1795A>C | non_coding_transcript_exon_variant | Exon 5 of 7 | 2 | |||||
GAS6 | ENST00000610073.1 | n.1460A>C | non_coding_transcript_exon_variant | Exon 7 of 9 | 2 | |||||
GAS6-AS1 | ENST00000458001.2 | n.62+7697T>G | intron_variant | Intron 1 of 4 | 5 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1640A>C (p.K547T) alteration is located in exon 13 (coding exon 13) of the GAS6 gene. This alteration results from a A to C substitution at nucleotide position 1640, causing the lysine (K) at amino acid position 547 to be replaced by a threonine (T). 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.