NM_000278.5(PAX2):c.954C>T (p.Tyr318=) AND multiple conditions

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Nov 15, 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:: RCV002219779.7

Allele description [Variation Report for NM_000278.5(PAX2):c.954C>T (p.Tyr318=)]

NM_000278.5(PAX2):c.954C>T (p.Tyr318=)

Gene:

PAX2:paired box 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q24.31

Genomic location:

Preferred name:

NM_000278.5(PAX2):c.954C>T (p.Tyr318=)

HGVS:

NC_000010.11:g.100824682C>T
NG_008680.2:g.93974C>T
NM_000278.5:c.954C>TMANE SELECT
NM_001304569.2:c.1047C>T
NM_003987.5:c.1023C>T
NM_003988.5:c.954C>T
NM_003989.5:c.954C>T
NM_003990.5:c.1023C>T
NP_000269.3:p.Tyr318=
NP_001291498.1:p.Tyr349=
NP_003978.3:p.Tyr341=
NP_003979.2:p.Tyr318=
NP_003980.3:p.Tyr318=
NP_003981.3:p.Tyr341=
NC_000010.10:g.102584439C>T
NM_003990.4:c.1023C>T

Links:

dbSNP: rs78122364

NCBI 1000 Genomes Browser:

rs78122364

Molecular consequence:

NM_000278.5:c.954C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001304569.2:c.1047C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_003987.5:c.1023C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_003988.5:c.954C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_003989.5:c.954C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_003990.5:c.1023C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: Renal coloboma syndrome (PAPRS)
Synonyms:: RENAL-COLOBOMA SYNDROME WITH MACULAR ABNORMALITIES; Papillorenal syndrome; Optic nerve coloboma with renal disease; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007352; MedGen: C1852759; Orphanet: 1475; OMIM: 120330

Name:: Focal segmental glomerulosclerosis 7 (FSGS7)
Identifiers:: MONDO: MONDO:0014451; MedGen: C4014925; Orphanet: 656; OMIM: 616002

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002380566	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Nov 15, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002800246	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Jul 9, 2021)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002380566

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Nov 15, 2023)

germline

clinical testing

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

SCV002800246

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Jul 9, 2021)

unknown

clinical testing

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

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
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

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 Labcorp Genetics (formerly Invitae), Labcorp, SCV002380566.3

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Fulgent Genetics, Fulgent Genetics, SCV002800246.1

#	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

Last Updated: Sep 29, 2024

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