NM_001379180.1:c.414G>A
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6BP7BS1
The NM_001379180.1(ESRRB):c.414G>A(p.Val138Val) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000144 in 1,614,168 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_001379180.1 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ESRRB | NM_001379180.1 | c.414G>A | p.Val138Val | synonymous_variant | Exon 2 of 7 | ENST00000644823.1 | NP_001366109.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ESRRB | ENST00000644823.1 | c.414G>A | p.Val138Val | synonymous_variant | Exon 2 of 7 | NM_001379180.1 | ENSP00000493776.1 |
Frequencies
GnomAD3 genomes AF: 0.000683 AC: 104AN: 152250Hom.: 1 Cov.: 33
GnomAD3 exomes AF: 0.000207 AC: 52AN: 251108Hom.: 0 AF XY: 0.000110 AC XY: 15AN XY: 135782
GnomAD4 exome AF: 0.0000882 AC: 129AN: 1461800Hom.: 1 Cov.: 36 AF XY: 0.0000743 AC XY: 54AN XY: 727186
GnomAD4 genome AF: 0.000683 AC: 104AN: 152368Hom.: 1 Cov.: 33 AF XY: 0.000671 AC XY: 50AN XY: 74508
ClinVar
Submissions by phenotype
not provided Uncertain:1Benign:1
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not specified Benign:1
p.Val117Val in exon 4 of ESRRB: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified 0.2% (25/10270) of Afri can chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinst itute.org; dbSNP rs141586518). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at