chr1:55007271:G>A Detail (hg38) (BSND)

Information

Genome

Assembly Position
hg19 chr1:55,472,944-55,472,944 View the variant detail on this assembly version.
hg38 chr1:55,007,271-55,007,271

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000651561.1:c.547G>A ENST00000651561.1:p.Gly183Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:<0.001
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 606412 OMIM
HGNC 16512 HGNC
Ensembl ENSG00000162399 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv1589734 TogoVar
COSMIC COSM2194292 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign 2024-01-30 criteria provided, multiple submitters, no conflicts not provided germline Detail
Uncertain significance 2018-01-13 criteria provided, single submitter Bartter disease type 4a germline Detail
Likely benign 2020-09-09 no assertion criteria provided Bartter syndrome germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_057176.3(BSND):c.547G>A (p.Gly183Ser) AND not provided ClinVar Detail
NM_057176.3(BSND):c.547G>A (p.Gly183Ser) AND Bartter disease type 4A ClinVar Detail
NM_057176.3(BSND):c.547G>A (p.Gly183Ser) AND Bartter syndrome ClinVar Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs750027126 dbSNP
Genome
hg38
Position
chr1:55,007,271-55,007,271
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1185
Mean of sample read depth (HGVD)
34.28
Standard deviation of sample read depth (HGVD)
15.29
Number of reference allele (HGVD)
2369
Number of alternative allele (HGVD)
1
Allele Frequency (HGVD)
4.219409282700422E-4
Gene Symbol (HGVD)
BSND
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs750027126
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0009
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
15
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8606
East Asian Allele Counts (ExAC)
4
East Asian Heterozygous Counts (ExAC)
4
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
4.6479200557750407E-4
Chromosome Counts in All Race (ExAC)
115330
Allele Counts in All Race (ExAC)
19
Heterozygous Counts in All Race (ExAC)
19
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.6474464579901152E-4
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