NM_001017995.3(SH3PXD2B):c.1012+1G>T AND Frank-Ter Haar syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 1, 2023
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV003152664.1

Allele description [Variation Report for NM_001017995.3(SH3PXD2B):c.1012+1G>T]

NM_001017995.3(SH3PXD2B):c.1012+1G>T

Gene:

SH3PXD2B:SH3 and PX domains 2B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q35.1

Genomic location:

Preferred name:

NM_001017995.3(SH3PXD2B):c.1012+1G>T

HGVS:

NC_000005.10:g.172350362C>A
NG_027746.2:g.109162G>T
NM_001017995.3:c.1012+1G>TMANE SELECT
NM_001308175.2:c.1012+1G>T
NC_000005.9:g.171777366C>A

Molecular consequence:

NM_001017995.3:c.1012+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001308175.2:c.1012+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

Observations:

Condition(s)

Name:: Frank-Ter Haar syndrome
Synonyms:: MELNICK-NEEDLES SYNDROME, AUTOSOMAL RECESSIVE; Ter Haar syndrome; Autosomal recessive Melnick-Needles syndrome (formerly); See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009579; MedGen: C1855305; Orphanet: 1266; Orphanet: 137834; OMIM: 249420

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003841247	Payam Genetics Center, General Welfare Department of North Khorasan Province	no assertion criteria provided	Uncertain significance (Jan 1, 2023)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 31931872, 31978614, 23140272

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003841247

Payam Genetics Center, General Welfare Department of North Khorasan Province

no assertion criteria provided

Uncertain significance
(Jan 1, 2023)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Iranian	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Management of retinitis pigmentosa by Wharton's jelly derived mesenchymal stem cells: preliminary clinical results.

Özmert E, Arslan U.

Stem Cell Res Ther. 2020 Jan 13;11(1):25. doi: 10.1186/s13287-020-1549-6.

PubMed [citation]

PMID:: 31931872
PMCID:: PMC6958670

A severe case of Frank-ter Haar syndrome and literature review: Further delineation of the phenotypical spectrum.

Durand B, Stoetzel C, Schaefer E, Calmels N, Scheidecker S, Kempf N, De Melo C, Guilbert AS, Timbolschi D, Donato L, Astruc D, Sauer A, Antal MC, Dollfus H, El Chehadeh S.

Eur J Med Genet. 2020 Apr;63(4):103857. doi: 10.1016/j.ejmg.2020.103857. Epub 2020 Jan 21. Review.

PubMed [citation]

PMID:: 31978614

See all PubMed Citations (3)

Details of each submission

From Payam Genetics Center, General Welfare Department of North Khorasan Province, SCV003841247.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Iranian	1	not provided	not provided	clinical testing	PubMed (3)

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

Last Updated: Jun 10, 2023

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Relating variation to medicine