rs201565517
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_007034.5(DNAJB4):c.808C>A(p.Pro270Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,746 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P270S) has been classified as Uncertain significance.
Frequency
Consequence
NM_007034.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DNAJB4 | ENST00000370763.6 | c.808C>A | p.Pro270Thr | missense_variant | Exon 3 of 3 | 1 | NM_007034.5 | ENSP00000359799.5 | ||
DNAJB4 | ENST00000476396.1 | n.415C>A | non_coding_transcript_exon_variant | Exon 2 of 2 | 3 | |||||
DNAJB4 | ENST00000487931.1 | n.716C>A | non_coding_transcript_exon_variant | Exon 3 of 3 | 2 | |||||
GIPC2 | ENST00000476882.1 | n.78+36422C>A | intron_variant | Intron 1 of 2 | 3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461746Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 727172
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.