chr5:218472:T>C Detail (hg19) (SDHA)

Information

Genome

Assembly Position
hg19 chr5:218,472-218,472
hg38 chr5:218,357-218,357 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001294332.1:c.2T>C NP_001281261.1:p.?
NM_001330758.1:c.2T>C NP_001317687.1:p.?
NM_004168.3:c.2T>C NP_004159.2:p.?
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

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

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 600857 OMIM
HGNC 10680 HGNC
Ensembl ENSG00000073578 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv19967262 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic 2022/12/21 paraganglioma germline MGS000061
(TMGS000128) 		Tatsuo Matsunaga
Tatsuo Matsunaga		 National Hospital Organization Tokyo Medical Center
National Hospital Organization Tokyo Medical Center, National Institute of Sensory Organs
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-12-05 criteria provided, single submitter Paragangliomas 5,Mitochondrial complex II deficiency, nuclear type 1 germline Detail
Pathogenic 2023-12-05 criteria provided, single submitter Paragangliomas 5,Mitochondrial complex II deficiency, nuclear type 1 germline Detail
Pathogenic Likely pathogenic 2023-04-24 criteria provided, multiple submitters, no conflicts Paragangliomas 5 unknown Detail
Pathogenic 2022-05-04 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_004168.4(SDHA):c.2T>C (p.Met1Thr) AND multiple conditions ClinVar Detail
NM_004168.4(SDHA):c.2T>C (p.Met1Thr) AND multiple conditions ClinVar Detail
NM_004168.4(SDHA):c.2T>C (p.Met1Thr) AND Paragangliomas 5 ClinVar Detail
NM_004168.4(SDHA):c.2T>C (p.Met1Thr) AND Hereditary cancer-predisposing 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
rs750380279 dbSNP
Genome
hg19
Position
chr5:218,472-218,472
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs750380279
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0004
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16754
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