U.S. flag

An official website of the United States government

NM_001379081.2(FREM1):c.4412G>A (p.Ser1471Asn) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 27, 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:
RCV002478723.1

Allele description [Variation Report for NM_001379081.2(FREM1):c.4412G>A (p.Ser1471Asn)]

NM_001379081.2(FREM1):c.4412G>A (p.Ser1471Asn)

Gene:
FREM1:FRAS1 related extracellular matrix 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p22.3
Genomic location:
Preferred name:
NM_001379081.2(FREM1):c.4412G>A (p.Ser1471Asn)
HGVS:
  • NC_000009.12:g.14784400C>T
  • NG_017005.2:g.130837G>A
  • NM_001379081.2:c.4412G>AMANE SELECT
  • NM_144966.7:c.4412G>A
  • NP_001366010.1:p.Ser1471Asn
  • NP_659403.4:p.Ser1471Asn
  • NP_659403.4:p.Ser1471Asn
  • NC_000009.11:g.14784398C>T
  • NM_144966.5:c.4412G>A
  • NR_163239.2:n.5167G>A
Protein change:
S1471N
Links:
dbSNP: rs200650442
NCBI 1000 Genomes Browser:
rs200650442
Molecular consequence:
  • NM_001379081.2:c.4412G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_144966.7:c.4412G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_163239.2:n.5167G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Oculotrichoanal syndrome (MOTA)
Synonyms:
Marles Greenberg Persaud syndrome; Unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies; Marles syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009560; MedGen: C1855425; OMIM: 248450
Name:
BNAR syndrome
Synonyms:
Bifid nose with or without anorectal and renal anomalies
Identifiers:
MONDO: MONDO:0012165; MedGen: C2750433; Orphanet: 217266; OMIM: 608980
Name:
Trigonocephaly 2 (TRIGNO2)
Identifiers:
MONDO: MONDO:0013774; MedGen: C3280974; Orphanet: 3366; OMIM: 614485

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002776588Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Dec 27, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical 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, SCV002776588.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024