12-21641990-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_002300.8(LDHB):c.557G>A(p.Cys186Tyr) variant causes a missense change. The variant allele was found at a frequency of 0.00000411 in 1,461,412 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002300.8 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
LDHB | ENST00000350669.5 | c.557G>A | p.Cys186Tyr | missense_variant | Exon 5 of 8 | 1 | NM_002300.8 | ENSP00000229319.1 | ||
ENSG00000285854 | ENST00000647960.1 | n.557G>A | non_coding_transcript_exon_variant | Exon 5 of 23 | ENSP00000497202.1 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD3 exomes AF: 0.0000119 AC: 3AN: 251224Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135774
GnomAD4 exome AF: 0.00000411 AC: 6AN: 1461412Hom.: 0 Cov.: 32 AF XY: 0.00000688 AC XY: 5AN XY: 726970
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.557G>A (p.C186Y) alteration is located in exon 5 (coding exon 4) of the LDHB gene. This alteration results from a G to A substitution at nucleotide position 557, causing the cysteine (C) at amino acid position 186 to be replaced by a tyrosine (Y). 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