chr7-74066698-C-T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_000501.4(ELN):c.2087-34C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.119 in 1,613,298 control chromosomes in the GnomAD database, including 12,147 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). There are indicators that this mutation may affect the branch point..
Frequency
Consequence
NM_000501.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.115 AC: 17548AN: 152118Hom.: 1040 Cov.: 31
GnomAD3 exomes AF: 0.105 AC: 26438AN: 251286Hom.: 1501 AF XY: 0.105 AC XY: 14304AN XY: 135806
GnomAD4 exome AF: 0.120 AC: 175147AN: 1461064Hom.: 11108 Cov.: 31 AF XY: 0.119 AC XY: 86352AN XY: 726818
GnomAD4 genome AF: 0.115 AC: 17554AN: 152234Hom.: 1039 Cov.: 31 AF XY: 0.114 AC XY: 8504AN XY: 74442
ClinVar
Submissions by phenotype
not provided Benign:2
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at