U.S. flag

An official website of the United States government

NM_006420.3(ARFGEF2):c.2378C>T (p.Thr793Met) AND Periventricular heterotopia with microcephaly, autosomal recessive

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 6, 2020
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:
RCV004799530.1

Allele description [Variation Report for NM_006420.3(ARFGEF2):c.2378C>T (p.Thr793Met)]

NM_006420.3(ARFGEF2):c.2378C>T (p.Thr793Met)

Gene:
ARFGEF2:ARF guanine nucleotide exchange factor 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q13.13
Genomic location:
Preferred name:
NM_006420.3(ARFGEF2):c.2378C>T (p.Thr793Met)
HGVS:
  • NC_000020.11:g.48988507C>T
  • NG_011490.2:g.71770C>T
  • NM_006420.3:c.2378C>TMANE SELECT
  • NP_006411.2:p.Thr793Met
  • NC_000020.10:g.47605044C>T
  • NG_011490.1:g.71770C>T
  • NM_006420.2:c.2378C>T
Protein change:
T793M
Links:
dbSNP: rs532986318
NCBI 1000 Genomes Browser:
rs532986318
Molecular consequence:
  • NM_006420.3:c.2378C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Periventricular heterotopia with microcephaly, autosomal recessive (ARPHM)
Synonyms:
PERIVENTRICULAR NODULAR HETEROTOPIA 2; Periventricular heterotopia with microcephaly
Identifiers:
MONDO: MONDO:0011966; MedGen: C1842563; Orphanet: 2149; OMIM: 608097

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
SCV001441425New York Genome Center - CSER-NYCKidSeq
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(Feb 6, 2020) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center - CSER-NYCKidSeq, SCV001441425.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Dec 14, 2024