NM_001080462.3(TMEM202):c.17A>C (p.His6Pro) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 9, 2023
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV004467475.1

Allele description [Variation Report for NM_001080462.3(TMEM202):c.17A>C (p.His6Pro)]

NM_001080462.3(TMEM202):c.17A>C (p.His6Pro)

Gene:

TMEM202:transmembrane protein 202 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q23

Genomic location:

Preferred name:

NM_001080462.3(TMEM202):c.17A>C (p.His6Pro)

HGVS:

NC_000015.10:g.72398343A>C
NM_001080462.3:c.17A>CMANE SELECT
NP_001073931.1:p.His6Pro
NC_000015.9:g.72690684A>C
NM_001080462.1:c.17A>C
NR_148418.2:n.39A>C
NR_148419.2:n.39A>C

Protein change:

H6P

Molecular consequence:

NM_001080462.3:c.17A>C - missense variant - [Sequence Ontology: SO:0001583]
NR_148418.2:n.39A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148419.2:n.39A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

sperm protein associated with the nucleus on the X chromosome N4 isoform X1 [Hom...
sperm protein associated with the nucleus on the X chromosome N4 isoform X1 [Homo sapiens]
gi|1034674383|ref|XP_016885032.1|

Protein
Hairy Leukoplakia of Tongue
Hairy Leukoplakia of Tongue

MedGen
Proliferative Verrucous Leukoplakia
Proliferative Verrucous Leukoplakia

MedGen
Laboratory Chemicals
Laboratory Chemicals
Chemicals necessary to perform experimental and/or investigative procedures and for the preparation of drugs and other chemicals.<br/>Year introduced: 1998

MeSH
Nucleic Acid Probes
Nucleic Acid Probes
Nucleic acid which complements a specific mRNA or DNA molecule, or fragment thereof; used for hybridization studies in order to identify microorganisms and for genetic studies...<br/>Year introduced: 1989

MeSH

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004967656	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 9, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004967656

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 9, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV004967656.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.17A>C (p.H6P) alteration is located in exon 1 (coding exon 1) of the TMEM202 gene. This alteration results from a A to C substitution at nucleotide position 17, causing the histidine (H) at amino acid position 6 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 7, 2024

ClinVar

Relating variation to medicine