chr7-137915944-C-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_194071.4(CREB3L2):c.388G>A(p.Val130Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.646 in 1,613,186 control chromosomes in the GnomAD database, including 343,262 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_194071.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CREB3L2 | NM_194071.4 | c.388G>A | p.Val130Ile | missense_variant | 3/12 | ENST00000330387.11 | |
CREB3L2 | NM_001318246.2 | c.199G>A | p.Val67Ile | missense_variant | 3/12 | ||
CREB3L2 | NM_001253775.2 | c.388G>A | p.Val130Ile | missense_variant | 3/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CREB3L2 | ENST00000330387.11 | c.388G>A | p.Val130Ile | missense_variant | 3/12 | 1 | NM_194071.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.718 AC: 109061AN: 151954Hom.: 40636 Cov.: 32
GnomAD3 exomes AF: 0.686 AC: 172219AN: 251122Hom.: 60859 AF XY: 0.673 AC XY: 91398AN XY: 135720
GnomAD4 exome AF: 0.639 AC: 933124AN: 1461114Hom.: 302562 Cov.: 40 AF XY: 0.638 AC XY: 463524AN XY: 726902
GnomAD4 genome ? AF: 0.718 AC: 109188AN: 152072Hom.: 40700 Cov.: 32 AF XY: 0.718 AC XY: 53384AN XY: 74324
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at