NM_001177316.2(SLC34A3):c.942G>C (p.Ala314=) AND Autosomal recessive hypophosphatemic bone disease

Germline classification:: Benign/Likely benign (2 submissions)
Last evaluated:: Sep 28, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV002495828.2

Allele description [Variation Report for NM_001177316.2(SLC34A3):c.942G>C (p.Ala314=)]

NM_001177316.2(SLC34A3):c.942G>C (p.Ala314=)

Gene:

SLC34A3:solute carrier family 34 member 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.3

Genomic location:

Preferred name:

NM_001177316.2(SLC34A3):c.942G>C (p.Ala314=)

HGVS:

NC_000009.12:g.137234125G>C
NG_017008.2:g.8225G>C
NM_001177316.2:c.942G>CMANE SELECT
NM_001177317.2:c.942G>C
NM_080877.3:c.942G>C
NP_001170787.2:p.Ala314=
NP_001170788.2:p.Ala314=
NP_543153.1:p.Ala314=
NP_543153.2:p.Ala314=
NC_000009.11:g.140128577G>C
NM_080877.2:c.942G>C

Links:

dbSNP: rs34664302

NCBI 1000 Genomes Browser:

rs34664302

Molecular consequence:

NM_001177316.2:c.942G>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001177317.2:c.942G>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_080877.3:c.942G>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: Autosomal recessive hypophosphatemic bone disease (HHRH)
Synonyms:: HYPERCALCIURIC RICKETS; Hypophosphatemic rickets with hypercalciuria
Identifiers:: MONDO: MONDO:0009431; MedGen: C1853271; Orphanet: 157215; OMIM: 241530

Recent activity

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PREDICTED: Homo sapiens colony stimulating factor 2 receptor subunit alpha (CSF2...
PREDICTED: Homo sapiens colony stimulating factor 2 receptor subunit alpha (CSF2RA), transcript variant X5, mRNA
gi|2462628337|ref|XM_054326518.1|

Nucleotide
PREDICTED: Homo sapiens colony stimulating factor 2 receptor subunit alpha (CSF2...
PREDICTED: Homo sapiens colony stimulating factor 2 receptor subunit alpha (CSF2RA), transcript variant X11, mRNA
gi|2462628352|ref|XM_054326525.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002801892	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Jul 27, 2021)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004562838	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2024)	Benign (Sep 28, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002801892

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Jul 27, 2021)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV004562838

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)

Benign
(Sep 28, 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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV002801892.1

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

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

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV004562838.1

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

#	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: Sep 29, 2024

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