chr20:58910418:TTTA> Detail (hg38) (GNAS)

Information

Genome

Assembly Position
hg19 chr20:57,485,473-57,485,476 
hg38 chr20:58,910,418-58,910,421

HGVS

Type Transcript Protein
RefSeq NM_001077489.3:c.993+17_993+20delTTTA
NM_001309840.1:c.*941+17_*941+20delTTTA
NM_001309861.1:c.*941+17_*941+20delTTTA
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

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

Prediction

ClinVar

Clinical Significance Benign Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 139320 OMIM
HGNC 4392 HGNC
Ensembl ENSG00000087460 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2023-07-31 criteria provided, single submitter not provided germline Detail
Likely benign 2021-10-02 criteria provided, single submitter ACTH-independent macronodular adrenal hyperplasia 1,Pituitary adenoma 3, multiple types,pseudopseudohypoparathyroidism,Pseudohypoparathyroidism type 1C,Pseudohypoparathyroidism type I A,Pseudohypoparathyroidism type 1B,progressive osseous heteroplasia,McCune-Albright syndrome unknown Detail
Likely benign 2021-10-02 criteria provided, single submitter ACTH-independent macronodular adrenal hyperplasia 1,Pituitary adenoma 3, multiple types,pseudopseudohypoparathyroidism,Pseudohypoparathyroidism type 1C,Pseudohypoparathyroidism type I A,Pseudohypoparathyroidism type 1B,progressive osseous heteroplasia,McCune-Albright syndrome unknown Detail
Likely benign 2021-10-02 criteria provided, single submitter ACTH-independent macronodular adrenal hyperplasia 1,Pituitary adenoma 3, multiple types,pseudopseudohypoparathyroidism,Pseudohypoparathyroidism type 1C,Pseudohypoparathyroidism type I A,Pseudohypoparathyroidism type 1B,progressive osseous heteroplasia,McCune-Albright syndrome unknown Detail
Likely benign 2021-10-02 criteria provided, single submitter ACTH-independent macronodular adrenal hyperplasia 1,Pituitary adenoma 3, multiple types,pseudopseudohypoparathyroidism,Pseudohypoparathyroidism type 1C,Pseudohypoparathyroidism type I A,Pseudohypoparathyroidism type 1B,progressive osseous heteroplasia,McCune-Albright syndrome unknown Detail
Likely benign 2021-10-02 criteria provided, single submitter ACTH-independent macronodular adrenal hyperplasia 1,Pituitary adenoma 3, multiple types,pseudopseudohypoparathyroidism,Pseudohypoparathyroidism type 1C,Pseudohypoparathyroidism type I A,Pseudohypoparathyroidism type 1B,progressive osseous heteroplasia,McCune-Albright syndrome unknown Detail
Likely benign 2021-10-02 criteria provided, single submitter ACTH-independent macronodular adrenal hyperplasia 1,Pituitary adenoma 3, multiple types,pseudopseudohypoparathyroidism,Pseudohypoparathyroidism type 1C,Pseudohypoparathyroidism type I A,Pseudohypoparathyroidism type 1B,progressive osseous heteroplasia,McCune-Albright syndrome unknown Detail
Likely benign 2021-10-02 criteria provided, single submitter ACTH-independent macronodular adrenal hyperplasia 1,Pituitary adenoma 3, multiple types,pseudopseudohypoparathyroidism,Pseudohypoparathyroidism type 1C,Pseudohypoparathyroidism type I A,Pseudohypoparathyroidism type 1B,progressive osseous heteroplasia,McCune-Albright syndrome unknown Detail
Likely benign 2021-10-02 criteria provided, single submitter ACTH-independent macronodular adrenal hyperplasia 1,Pituitary adenoma 3, multiple types,pseudopseudohypoparathyroidism,Pseudohypoparathyroidism type 1C,Pseudohypoparathyroidism type I A,Pseudohypoparathyroidism type 1B,progressive osseous heteroplasia,McCune-Albright syndrome unknown Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000516.7(GNAS):c.1038+17_1038+20del AND not provided ClinVar Detail
NM_000516.7(GNAS):c.1038+17_1038+20del AND multiple conditions ClinVar Detail
NM_000516.7(GNAS):c.1038+17_1038+20del AND multiple conditions ClinVar Detail
NM_000516.7(GNAS):c.1038+17_1038+20del AND multiple conditions ClinVar Detail
NM_000516.7(GNAS):c.1038+17_1038+20del AND multiple conditions ClinVar Detail
NM_000516.7(GNAS):c.1038+17_1038+20del AND multiple conditions ClinVar Detail
NM_000516.7(GNAS):c.1038+17_1038+20del AND multiple conditions ClinVar Detail
NM_000516.7(GNAS):c.1038+17_1038+20del AND multiple conditions ClinVar Detail
NM_000516.7(GNAS):c.1038+17_1038+20del AND multiple conditions ClinVar Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs773644530 dbSNP
Genome
hg38
Position
chr20:58,910,418-58,910,421
Variant Type
snv
Reference Allele
TTTA
Alternative Allele
-
East Asian Chromosome Counts (ExAC)
8614
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
119632
Allele Counts in All Race (ExAC)
78
Heterozygous Counts in All Race (ExAC)
78
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
6.519994650260799E-4
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