rs12493995
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000489729.5(NAALADL2):n.179-52845C>T variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0796 in 151,966 control chromosomes in the GnomAD database, including 697 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
ENST00000489729.5 intron, non_coding_transcript
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 |
---|---|---|---|---|---|---|---|
NAALADL2 | XM_006713560.4 | c.-114-52845C>T | intron_variant | ||||
NAALADL2 | XM_017006071.2 | c.-184-50090C>T | intron_variant | ||||
NAALADL2 | XM_017006073.2 | c.-198-7177C>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NAALADL2 | ENST00000489729.5 | n.179-52845C>T | intron_variant, non_coding_transcript_variant | 1 | |||||
NAALADL2 | ENST00000491329.5 | n.171-7177C>T | intron_variant, non_coding_transcript_variant | 1 | |||||
NAALADL2 | ENST00000434257.1 | c.-114-52845C>T | intron_variant | 4 |
Frequencies
GnomAD3 genomes ? AF: 0.0797 AC: 12101AN: 151846Hom.: 700 Cov.: 31
GnomAD4 genome ? AF: 0.0796 AC: 12096AN: 151966Hom.: 697 Cov.: 31 AF XY: 0.0846 AC XY: 6283AN XY: 74278
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at