rs112797967
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_152722.5(HEPACAM):c.427+39G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0261 in 1,568,498 control chromosomes in the GnomAD database, including 646 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Genomes: 𝑓 0.021 ( 49 hom., cov: 32)
Exomes 𝑓: 0.027 ( 597 hom. )
Consequence
HEPACAM
NM_152722.5 intron
NM_152722.5 intron
Scores
2
Clinical Significance
Conservation
PhyloP100: 0.0900
Genes affected
HEPACAM (HGNC:26361): (hepatic and glial cell adhesion molecule) The protein encoded by this gene is a single-pass type I membrane protein that localizes to the cytoplasmic side of the cell membrane. The encoded protein acts as a homodimer and is involved in cell motility and cell-matrix interactions. The expression of this gene is downregulated or undetectable in many cancer cell lines, so this may be a tumor suppressor gene. [provided by RefSeq, Jul 2011]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -20 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.82).
BP6
?
Variant 11-124924689-C-T is Benign according to our data. Variant chr11-124924689-C-T is described in ClinVar as [Likely_benign]. Clinvar id is 262679.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.
BS1
?
Variant frequency is greater than expected in population nfe. gnomad4 allele frequency = 0.0209 (3181/152238) while in subpopulation NFE AF= 0.0307 (2085/68006). AF 95% confidence interval is 0.0296. There are 49 homozygotes in gnomad4. There are 1487 alleles in male gnomad4 subpopulation. This position pass quality control queck.
BS2
?
High Homozygotes in GnomAd at 49 AD,AR gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HEPACAM | NM_152722.5 | c.427+39G>A | intron_variant | ENST00000298251.5 | |||
LOC107984406 | XR_001748429.3 | n.335-18711C>T | intron_variant, non_coding_transcript_variant | ||||
HEPACAM | NM_001411043.1 | c.427+39G>A | intron_variant | ||||
HEPACAM | XM_005271449.3 | c.427+39G>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HEPACAM | ENST00000298251.5 | c.427+39G>A | intron_variant | 1 | NM_152722.5 | P1 | |||
HEPACAM | ENST00000703807.1 | c.427+39G>A | intron_variant | ||||||
HEPACAM | ENST00000528971.1 | n.872G>A | non_coding_transcript_exon_variant | 2/2 | 2 | ||||
HEPACAM | ENST00000526273.1 | n.199+39G>A | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0209 AC: 3184AN: 152120Hom.: 49 Cov.: 32
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GnomAD3 exomes AF: 0.0221 AC: 5498AN: 248924Hom.: 81 AF XY: 0.0224 AC XY: 3013AN XY: 134802
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GnomAD4 exome AF: 0.0267 AC: 37785AN: 1416260Hom.: 597 Cov.: 26 AF XY: 0.0262 AC XY: 18545AN XY: 707146
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ClinVar
Significance: Benign/Likely benign
Submissions summary: Benign:2
Revision: criteria provided, multiple submitters, no conflicts
LINK: link
Submissions by phenotype
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | - | - - |
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | Apr 04, 2019 | - - |
Computational scores
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Name
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BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
Splicing
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at