NM_014714.4(IFT140):c.2768+18G>A AND Saldino-Mainzer syndrome

Clinical significance:Benign (Last evaluated: Nov 23, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001513615.1

Allele description [Variation Report for NM_014714.4(IFT140):c.2768+18G>A]

NM_014714.4(IFT140):c.2768+18G>A

Gene:
IFT140:intraflagellar transport 140 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_014714.4(IFT140):c.2768+18G>A
HGVS:
  • NC_000016.10:g.1525869C>T
  • NG_032783.1:g.91240G>A
  • NM_014714.4:c.2768+18G>AMANE SELECT
  • NC_000016.9:g.1575870C>T
Molecular consequence:
  • NM_014714.4:c.2768+18G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Saldino-Mainzer syndrome (SRTD9)
Synonyms:
Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia; Conorenal syndrome; SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009964; MedGen: C1849437; Orphanet: 140969; OMIM: 266920

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001721262Invitaecriteria provided, single submitter
Benign
(Nov 23, 2020)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001721262.1

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

Last Updated: Jun 19, 2021

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