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rs2234681

chr20-46008772-CCACACACACACACACACACACACACA-Cchr20-46008772-CCACACACACACACACACACACACACA-CCAchr20-46008772-CCACACACACACACACACACACACACA-CCACAchr20-46008772-CCACACACACACACACACACACACACA-CCACACAchr20-46008772-CCACACACACACACACACACACACACA-CCACACACAchr20-46008772-CCACACACACACACACACACACACACA-CCACACACACAchr20-46008772-CCACACACACACACACACACACACACA-CCACACACACACAchr20-46008772-CCACACACACACACACACACACACACA-CCACACACACACACAchr20-46008772-CCACACACACACACACACACACACACA-CCACACACACACACACAchr20-46008772-CCACACACACACACACACACACACACA-CCACACACACACACACACAchr20-46008772-CCACACACACACACACACACACACACA-CCACACACACACACACACACAchr20-46008772-CCACACACACACACACACACACACACA-CCACACACACACACACACACACAchr20-46008772-CCACACACACACACACACACACACACA-CCACACACACACACACACACACACAchr20-46008772-CCACACACACACACACACACACACACA-CCACACACACACACACACACACACACACAchr20-46008772-CCACACACACACACACACACACACACA-CCACACACACACACACACACACACACACACAchr20-46008772-CCACACACACACACACACACACACACA-CCACACACACACACACACACACACACACACACAchr20-46008772-CCACACACACACACACACACACACACA-CCACACACACACACACACACACACACACACACACAchr20-46008772-CCACACACACACACACACACACACACA-CCACACACACACACACACACACACACACACACACACAchr20-46008772-CCACACACACACACACACACACACACA-CCACACACACACACACACACACACACACACACACACACAchr20-46008772-CCACACACACACACACACACACACACA-CCACACACACACACACACACACACACACACACACACACACACA

Variant summary

Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2

The variant allele was found at a frequency of 0.0000251 in 996,392 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: 𝑓 0.000014 ( 0 hom., cov: 0)
Exomes 𝑓: 0.000027 ( 0 hom. )

Consequence

Unknown

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 1.65
Variant links:

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ACMG classification

Verdict is Uncertain_significance. Variant got 2 ACMG points.

PM2
?
    PM2 - Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium
Very rare variant in population databases, with high coverage;

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
?
    Genome Aggregation Database, over 76,156 genomes
AF:
0.0000141
AC:
2
AN:
141536
Hom.:
0
Cov.:
0
show subpopulations
Gnomad AFR
AF:
0.0000270
Gnomad AMI
AF:
0.00
Gnomad AMR
AF:
0.00
Gnomad ASJ
AF:
0.00
Gnomad EAS
AF:
0.00
Gnomad SAS
AF:
0.00
Gnomad FIN
AF:
0.00
Gnomad MID
AF:
0.00
Gnomad NFE
AF:
0.0000152
Gnomad OTH
AF:
0.00
GnomAD4 exome
AF:
0.0000269
AC:
23
AN:
854856
Hom.:
0
AF XY:
0.0000276
AC XY:
12
AN XY:
435408
show subpopulations
Gnomad4 AFR exome
AF:
0.00
Gnomad4 AMR exome
AF:
0.0000632
Gnomad4 ASJ exome
AF:
0.00
Gnomad4 EAS exome
AF:
0.00
Gnomad4 SAS exome
AF:
0.00
Gnomad4 FIN exome
AF:
0.00
Gnomad4 NFE exome
AF:
0.0000339
Gnomad4 OTH exome
AF:
0.00
GnomAD4 genome
?
    Genome Aggregation Database, over 76,156 genomes
AF:
0.0000141
AC:
2
AN:
141536
Hom.:
0
Cov.:
0
AF XY:
0.0000293
AC XY:
2
AN XY:
68180
show subpopulations
Gnomad4 AFR
AF:
0.0000270
Gnomad4 AMR
AF:
0.00
Gnomad4 ASJ
AF:
0.00
Gnomad4 EAS
AF:
0.00
Gnomad4 SAS
AF:
0.00
Gnomad4 FIN
AF:
0.00
Gnomad4 NFE
AF:
0.0000152
Gnomad4 OTH
AF:
0.00

ClinVar

Not reported in ClinVar

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

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs2234681; hg19: chr20-44637411; API