chr10:43609994:C>T Detail (hg19) (RET)

Information

Genome

Assembly Position
hg19 chr10:43,609,994-43,609,994
hg38 chr10:43,114,546-43,114,546 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_020975.4:c.1946C>T NP_066124.1:p.Ser649Leu
NM_020630.4:c.1946C>T NP_065681.1:p.Ser649Leu
Ensemble ENST00000355710.8:c.1946C>T ENST00000355710.8:p.Ser649Leu
Summary

MGeND

Clinical significance Uncertain significance
Variant entry 2
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 Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 164761 OMIM
HGNC 9967 HGNC
Ensembl ENSG00000165731 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM4170226 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Uncertain significance 2018/08/08 hereditary breast and ovarian cancer syndrome germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Uncertain significance 2018/08/08 peritoneum, unspecified germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2022-01-10 criteria provided, conflicting interpretations not specified germline Detail
Likely benign 2014-06-01 no assertion criteria provided Elevated basal serum calcitonin germline Detail
Conflicting interpretations of pathogenicity 2021-06-21 criteria provided, conflicting interpretations Hereditary cancer-predisposing syndrome germline Detail
Conflicting interpretations of pathogenicity 2023-09-01 criteria provided, conflicting interpretations not provided germline unknown Detail
Benign Likely benign 2023-08-22 criteria provided, multiple submitters, no conflicts multiple endocrine neoplasia type 2A germline unknown Detail
Likely benign 2024-01-31 criteria provided, multiple submitters, no conflicts Multiple endocrine neoplasia, type 2 germline Detail
Likely benign 2018-05-15 criteria provided, single submitter Hirschsprung disease, susceptibility to, 1 germline Detail
Uncertain significance 2018-05-15 criteria provided, single submitter pheochromocytoma germline Detail
Benign 2018-05-15 criteria provided, single submitter multiple endocrine neoplasia germline Detail
Likely benign 2018-05-15 criteria provided, single submitter Renal hypodysplasia/aplasia 1 germline Detail
Uncertain significance 2020-12-17 no assertion criteria provided appendicitis not-reported Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.320 Medullary carcinoma of thyroid Characterization of the RET protooncogene transmembrane domain mutation S649L as... BeFree 18322301 Detail
0.614 multiple endocrine neoplasia type 2A RET p.Tyr791Phe and p.Ser649Leu and VHL p.Pro81Ser are definitely not pathogenic... BeFree 19906784 Detail
0.012 Von Hippel-Lindau syndrome RET p.Tyr791Phe and p.Ser649Leu and VHL p.Pro81Ser are definitely not pathogenic... BeFree 19906784 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_020975.6(RET):c.1946C>T (p.Ser649Leu) AND not specified ClinVar Detail
NM_020975.6(RET):c.1946C>T (p.Ser649Leu) AND Elevated basal serum calcitonin ClinVar Detail
NM_020975.6(RET):c.1946C>T (p.Ser649Leu) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_020975.6(RET):c.1946C>T (p.Ser649Leu) AND not provided ClinVar Detail
NM_020975.6(RET):c.1946C>T (p.Ser649Leu) AND Multiple endocrine neoplasia type 2A ClinVar Detail
NM_020975.6(RET):c.1946C>T (p.Ser649Leu) AND Multiple endocrine neoplasia, type 2 ClinVar Detail
NM_020975.6(RET):c.1946C>T (p.Ser649Leu) AND Hirschsprung disease, susceptibility to, 1 ClinVar Detail
NM_020975.6(RET):c.1946C>T (p.Ser649Leu) AND Pheochromocytoma ClinVar Detail
NM_020975.6(RET):c.1946C>T (p.Ser649Leu) AND Multiple endocrine neoplasia ClinVar Detail
NM_020975.6(RET):c.1946C>T (p.Ser649Leu) AND Renal hypodysplasia/aplasia 1 ClinVar Detail
NM_020975.6(RET):c.1946C>T (p.Ser649Leu) AND Appendicitis ClinVar Detail
Characterization of the RET protooncogene transmembrane domain mutation S649L associated with nonagg... DisGeNET Detail
RET p.Tyr791Phe and p.Ser649Leu and VHL p.Pro81Ser are definitely not pathogenic mutations for VHL a... DisGeNET Detail
RET p.Tyr791Phe and p.Ser649Leu and VHL p.Pro81Ser are definitely not pathogenic mutations for VHL a... DisGeNET 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
rs148935214 dbSNP
Genome
hg19
Position
chr10:43,609,994-43,609,994
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Homozygous Counts in All Race (ExAC)
0
East Asian Chromosome Counts (ExAC)
8646
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)
121214
Allele Counts in All Race (ExAC)
39
Heterozygous Counts in All Race (ExAC)
39
Allele Frequency in All Race (ExAC)
3.2174501295229924E-4
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