NM_000054.7(AVPR2):c.404T>C (p.Leu135Pro) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 28, 2016
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:: RCV000517018.2

Allele description [Variation Report for NM_000054.7(AVPR2):c.404T>C (p.Leu135Pro)]

NM_000054.7(AVPR2):c.404T>C (p.Leu135Pro)

Gene:

AVPR2:arginine vasopressin receptor 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_000054.7(AVPR2):c.404T>C (p.Leu135Pro)

HGVS:

NC_000023.11:g.153905910T>C
NG_008687.1:g.5937T>C
NG_013220.1:g.25351A>G
NM_000054.7:c.404T>CMANE SELECT
NM_001146151.3:c.404T>C
NP_000045.1:p.Leu135Pro
NP_001139623.1:p.Leu135Pro
LRG_716t1:c.404T>C
LRG_716:g.5937T>C
LRG_716p1:p.Leu135Pro
NC_000023.10:g.153171364T>C
NM_000054.4:c.404T>C
p.LEU135PRO

Protein change:

L135P

Links:

dbSNP: rs1557100610

NCBI 1000 Genomes Browser:

rs1557100610

Molecular consequence:

NM_000054.7:c.404T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001146151.3:c.404T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000612477	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Uncertain significance (Oct 28, 2016)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 10820168, 18726898, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000612477

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Uncertain significance
(Oct 28, 2016)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

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

Citations

PubMed

Report of 33 novel AVPR2 mutations and analysis of 117 families with X-linked nephrogenic diabetes insipidus.

Arthus MF, Lonergan M, Crumley MJ, Naumova AK, Morin D, DE Marco LA, Kaplan BS, Robertson GL, Sasaki S, Morgan K, Bichet DG, Fujiwara TM.

J Am Soc Nephrol. 2000 Jun;11(6):1044-1054. doi: 10.1681/ASN.V1161044.

PubMed [citation]

PMID:: 10820168

AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance.

Spanakis E, Milord E, Gragnoli C.

J Cell Physiol. 2008 Dec;217(3):605-17. doi: 10.1002/jcp.21552. Review.

PubMed [citation]

PMID:: 18726898

See all PubMed Citations (3)

Details of each submission

From Athena Diagnostics, SCV000612477.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

#	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

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