NM_004817.4:c.2880+95A>G
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_004817.4(TJP2):c.2880+95A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0778 in 1,484,356 control chromosomes in the GnomAD database, including 4,799 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_004817.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TJP2 | ENST00000377245.9 | c.2880+95A>G | intron_variant | Intron 19 of 22 | 1 | NM_004817.4 | ENSP00000366453.4 | |||
ENSG00000285130 | ENST00000642889.1 | c.3267+95A>G | intron_variant | Intron 21 of 24 | ENSP00000493780.1 |
Frequencies
GnomAD3 genomes AF: 0.0711 AC: 10824AN: 152130Hom.: 430 Cov.: 32
GnomAD3 exomes AF: 0.0661 AC: 6723AN: 101664Hom.: 246 AF XY: 0.0687 AC XY: 3489AN XY: 50806
GnomAD4 exome AF: 0.0786 AC: 104690AN: 1332108Hom.: 4367 Cov.: 33 AF XY: 0.0791 AC XY: 51273AN XY: 648358
GnomAD4 genome AF: 0.0712 AC: 10837AN: 152248Hom.: 432 Cov.: 32 AF XY: 0.0719 AC XY: 5350AN XY: 74444
ClinVar
Submissions by phenotype
not provided Benign:2
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not specified Benign:1
His992Arg in Exon 19 of TJP2: This variant is not expected to have clinical sign ificance because it has been identified in 6.9% (174/2532) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs77236826). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at