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GeneBe

11-27658115-C-C

Variant summary

Our verdict is Likely benign. Variant got -6 ACMG points: 2P and 8B. PM2_SupportingPP3BP6_Very_Strong

The variant was absent in control chromosomes in GnomAD Genomes project. Variant has been reported in ClinVar as Benign (★★).

Frequency

Genomes: not found (cov: 32)

Consequence

Unknown

Scores

Not classified

Clinical Significance

Benign criteria provided, multiple submitters, no conflicts B:2

Conservation

PhyloP100: 9.60

Links

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ACMG classification

Verdict is Likely_benign. Variant got -6 ACMG points.

PM2
?
Very rare variant; Number of alleles below threshold, Median coverage is 32.
PP3
?
No computational evidence supports a deleterious effect, but strongly conserved according to phyloP
BP6
?
Variant 11-27658115-C-C is Benign according to our data. Variant chr11-27658115-C-C is described in ClinVar as [Benign]. Clinvar id is 179329.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE UniProt

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Appris UniProt

Frequencies

GnomAD3 genomes
Cov.:
32

ClinVar

Significance: 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 submitterclinical testingLaboratory for Molecular Medicine, Mass General Brigham Personalized MedicineMar 12, 2018This "variant" is a RefSeq error. G at this position is the major allele with an allele frequency of 99.8% in gnomAD (http://gnomad.broadinstitute.org/variant/1 1-27679662-T-C). -
not provided Benign:1
Benign, criteria provided, single submitterclinical testingInvitaeOct 30, 2022- -

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

No publications associated with this variant yet.

Other links and lift over

hg19: chr11-27679662; API