rs648202
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_004795.4(KL):c.2247T>A(p.Ala749=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. A749A) has been classified as Benign.
Frequency
Consequence
NM_004795.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KL | NM_004795.4 | c.2247T>A | p.Ala749= | synonymous_variant | 4/5 | ENST00000380099.4 | |
KL | XM_006719895.3 | c.1326T>A | p.Ala442= | synonymous_variant | 4/5 | ||
KL | XM_047430776.1 | c.*647T>A | 3_prime_UTR_variant | 4/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KL | ENST00000380099.4 | c.2247T>A | p.Ala749= | synonymous_variant | 4/5 | 1 | NM_004795.4 | P1 | |
KL | ENST00000487852.1 | n.2305T>A | non_coding_transcript_exon_variant | 4/5 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD4 exome Cov.: 71
GnomAD4 genome ? Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at