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NM_015330.6(SPECC1L):c.1062del (p.Gln354fs) AND Teebi hypertelorism syndrome 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 20, 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:
RCV002287243.1

Allele description [Variation Report for NM_015330.6(SPECC1L):c.1062del (p.Gln354fs)]

NM_015330.6(SPECC1L):c.1062del (p.Gln354fs)

Genes:
SPECC1L-ADORA2A:SPECC1L-ADORA2A readthrough (NMD candidate) [Gene - HGNC]
SPECC1L:sperm antigen with calponin homology and coiled-coil domains 1 like [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
22q11.23
Genomic location:
Preferred name:
NM_015330.6(SPECC1L):c.1062del (p.Gln354fs)
HGVS:
  • NC_000022.11:g.24322042del
  • NG_031915.3:g.56213del
  • NM_001145468.4:c.1062del
  • NM_001254732.3:c.1062del
  • NM_015330.6:c.1062delMANE SELECT
  • NP_001138940.4:p.Gln354fs
  • NP_001241661.3:p.Gln354fs
  • NP_056145.5:p.Gln354fs
  • NC_000022.10:g.24718010del
  • NG_031915.2:g.56221del
  • NM_001145468.4:c.1062delG
  • NR_103546.1:n.1370del
Protein change:
Q354fs
Molecular consequence:
  • NM_001145468.4:c.1062del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001254732.3:c.1062del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_015330.6:c.1062del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_103546.1:n.1370del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Teebi hypertelorism syndrome 1
Identifiers:
MONDO: MONDO:0800025; MedGen: CN306405; OMIM: 145420

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002577475Laboratory of Medical Genetics, National & Kapodistrian University of Athens
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Dec 20, 2021) 		paternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyesnot 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 Laboratory of Medical Genetics, National & Kapodistrian University of Athens, SCV002577475.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

PVS1, PM2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 5, 2023