rs75824346
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_153702.4(ELMOD2):c.*9C>T variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00145 in 1,585,338 control chromosomes in the GnomAD database, including 28 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_153702.4 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ELMOD2 | NM_153702.4 | c.*9C>T | 3_prime_UTR_variant | Exon 9 of 9 | ENST00000323570.8 | NP_714913.1 | ||
ELMOD2 | XM_005262885.4 | c.*9C>T | 3_prime_UTR_variant | Exon 9 of 9 | XP_005262942.1 | |||
ELMOD2 | XM_011531819.3 | c.*9C>T | 3_prime_UTR_variant | Exon 9 of 9 | XP_011530121.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00226 AC: 344AN: 152188Hom.: 3 Cov.: 32
GnomAD3 exomes AF: 0.00566 AC: 1299AN: 229676Hom.: 18 AF XY: 0.00452 AC XY: 563AN XY: 124474
GnomAD4 exome AF: 0.00137 AC: 1961AN: 1433032Hom.: 25 Cov.: 30 AF XY: 0.00124 AC XY: 880AN XY: 711762
GnomAD4 genome AF: 0.00225 AC: 343AN: 152306Hom.: 3 Cov.: 32 AF XY: 0.00258 AC XY: 192AN XY: 74462
ClinVar
Submissions by phenotype
not specified Benign:1
*9C>T in exon 9 of ELMOD2: This variant is not expected to have clinical signifi cance because it has been identified in 3.0% (359/11216), including 5 homozygote s of Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org; dbSNP rs75824346). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at