9-101360727-C-G
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Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_001701.4(BAAT):c.*1701G>C variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000565 in 152,282 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Genomes: 𝑓 0.00056 ( 3 hom., cov: 32)
Exomes 𝑓: 0.0 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
BAAT
NM_001701.4 3_prime_UTR
NM_001701.4 3_prime_UTR
Scores
2
Clinical Significance
Conservation
PhyloP100: 0.281
Genes affected
BAAT (HGNC:932): (bile acid-CoA:amino acid N-acyltransferase) The protein encoded by this gene is a liver enzyme that catalyzes the transfer of C24 bile acids from the acyl-CoA thioester to either glycine or taurine, the second step in the formation of bile acid-amino acid conjugates. The bile acid conjugates then act as a detergent in the gastrointestinal tract, which enhances lipid and fat-soluble vitamin absorption. Defects in this gene are a cause of familial hypercholanemia (FHCA). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -10 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.92).
BP6
Variant 9-101360727-C-G is Benign according to our data. Variant chr9-101360727-C-G is described in ClinVar as [Likely_benign]. Clinvar id is 364251.Status of the report is criteria_provided_single_submitter, 1 stars.
BS2
High Homozygotes in GnomAd4 at 3 AR gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BAAT | NM_001701.4 | c.*1701G>C | 3_prime_UTR_variant | 4/4 | ENST00000259407.7 | ||
BAAT | NM_001127610.2 | c.*1701G>C | 3_prime_UTR_variant | 4/4 | |||
BAAT | NM_001374715.1 | c.*1701G>C | 3_prime_UTR_variant | 4/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BAAT | ENST00000259407.7 | c.*1701G>C | 3_prime_UTR_variant | 4/4 | 1 | NM_001701.4 | P1 | ||
ENST00000447628.2 | n.1128-63C>G | intron_variant, non_coding_transcript_variant | |||||||
BAAT | ENST00000674791.1 | c.762+2196G>C | intron_variant, NMD_transcript_variant | ||||||
BAAT | ENST00000674909.1 | c.804+2154G>C | intron_variant, NMD_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.000565 AC: 86AN: 152164Hom.: 3 Cov.: 32
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GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1070Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 536
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GnomAD4 genome AF: 0.000565 AC: 86AN: 152282Hom.: 3 Cov.: 32 AF XY: 0.000725 AC XY: 54AN XY: 74460
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ClinVar
Significance: Likely benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
Hypercholanemia, familial 1 Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Illumina Laboratory Services, Illumina | Jan 13, 2018 | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. - |
Computational scores
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Name
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at