12-102958393-CGCAGCAGCAGCAGCAGCAGCAGCAGCA-CGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP6_Very_StrongBA1
The NM_004316.4(ASCL1):c.184_186dupCAG(p.Gln62dup) variant causes a conservative inframe insertion change involving the alteration of a non-conserved nucleotide. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_004316.4 conservative_inframe_insertion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ASCL1 | ENST00000266744.4 | c.184_186dupCAG | p.Gln62dup | conservative_inframe_insertion | Exon 1 of 2 | 1 | NM_004316.4 | ENSP00000266744.3 | ||
PAH | ENST00000547319.1 | n.15_17dupTGC | non_coding_transcript_exon_variant | Exon 1 of 3 | 4 | |||||
PAH | ENST00000551337.5 | c.-297_-295dupTGC | upstream_gene_variant | 3 | ENSP00000447620.1 |
Frequencies
GnomAD3 genomes AF: 0.298 AC: 44662AN: 150016Hom.: 6816 Cov.: 0
GnomAD4 exome AF: 0.254 AC: 344547AN: 1355720Hom.: 7829 Cov.: 17 AF XY: 0.251 AC XY: 167995AN XY: 668640
GnomAD4 genome AF: 0.298 AC: 44690AN: 150104Hom.: 6824 Cov.: 0 AF XY: 0.295 AC XY: 21630AN XY: 73270
ClinVar
Submissions by phenotype
not specified Benign:6
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Gln51[13] in exon 1 of ASCL1: This variant is not expected to have clinical sig nificance because it has been identified at high frequencies in published contro l chromosomes, including 1.3% (24/1804) of Japanese chromosomes (Sasaki 2003, Id e 2005) and 13% (42/322) of Caucasian chromosomes (Deng 2010). Moreover, Gln51[1 3] has been identified by our laboratory in 32% (96/304) of Caucasian control ch romosomes (LMM unpublished data). -
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Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease Benign:1
African/African American population allele frequency is 31.43% (rs3832799, 2696/8308 alleles, 431 homozygotes in gnomAD v2.1). Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.2.1, this variant is classified as BENIGN. Following criteria are met: BA1 -
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at