rs376724853
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_015141.4(GPD1L):c.837C>G(p.Phe279Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,118 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. F279F) has been classified as Likely benign.
Frequency
Consequence
NM_015141.4 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GPD1L | NM_015141.4 | c.837C>G | p.Phe279Leu | missense_variant | 6/8 | ENST00000282541.10 | |
GPD1L | XM_006713068.3 | c.696C>G | p.Phe232Leu | missense_variant | 5/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GPD1L | ENST00000282541.10 | c.837C>G | p.Phe279Leu | missense_variant | 6/8 | 1 | NM_015141.4 | P1 | |
GPD1L | ENST00000474846.5 | n.761C>G | non_coding_transcript_exon_variant | 1/3 | 2 | ||||
GPD1L | ENST00000496151.1 | n.338C>G | non_coding_transcript_exon_variant | 1/3 | 2 | ||||
GPD1L | ENST00000428684.1 | c.*464C>G | 3_prime_UTR_variant, NMD_transcript_variant | 5/6 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000403 AC: 1AN: 248336Hom.: 0 AF XY: 0.00000742 AC XY: 1AN XY: 134824
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461118Hom.: 0 Cov.: 34 AF XY: 0.00000138 AC XY: 1AN XY: 726878
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
Cardiovascular phenotype Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 24, 2021 | The p.F279L variant (also known as c.837C>G), located in coding exon 6 of the GPD1L gene, results from a C to G substitution at nucleotide position 837. The phenylalanine at codon 279 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at