NM_207361.6(FREM2):c.6367T>C (p.Ser2123Pro) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 14, 2021
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:: RCV002491361.1

Allele description [Variation Report for NM_207361.6(FREM2):c.6367T>C (p.Ser2123Pro)]

NM_207361.6(FREM2):c.6367T>C (p.Ser2123Pro)

Gene:

FREM2:FRAS1 related extracellular matrix 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q13.3

Genomic location:

Preferred name:

NM_207361.6(FREM2):c.6367T>C (p.Ser2123Pro)

HGVS:

NC_000013.11:g.38848658T>C
NG_008125.2:g.166623T>C
NM_207361.6:c.6367T>CMANE SELECT
NP_997244.4:p.Ser2123Pro
NC_000013.10:g.39422795T>C
NM_207361.4:c.6367T>C

Protein change:

S2123P

Links:

dbSNP: rs116453495

NCBI 1000 Genomes Browser:

rs116453495

Molecular consequence:

NM_207361.6:c.6367T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Isolated cryptophthalmia
Synonyms:: ANKYLOBLEPHARON, SIMPLE; Cryptophthalmos, unilateral or bilateral, isolated
Identifiers:: MONDO: MONDO:0007410; MedGen: C1852453; Orphanet: 91396; OMIM: 123570

Name:: Fraser syndrome 2 (FRASRS2)
Identifiers:: MONDO: MONDO:0054738; MedGen: C4540036; OMIM: 617666

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002791527	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Dec 14, 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

SCV002791527

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Dec 14, 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	unknown	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, SCV002791527.1

#	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: Jul 29, 2023

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