NM_015662.3(IFT172):c.4908T>G (p.His1636Gln) AND multiple conditions

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Nov 18, 2022
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV002504433.9

Allele description [Variation Report for NM_015662.3(IFT172):c.4908T>G (p.His1636Gln)]

NM_015662.3(IFT172):c.4908T>G (p.His1636Gln)

Genes:

IFT172:intraflagellar transport 172 [Gene - OMIM - HGNC]
KRTCAP3:keratinocyte associated protein 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p23.3

Genomic location:

Preferred name:

NM_015662.3(IFT172):c.4908T>G (p.His1636Gln)

HGVS:

NC_000002.12:g.27445751A>C
NG_034068.1:g.49061T>G
NM_001168364.2:c.*6-550A>C
NM_001410739.1:c.4842T>G
NM_015662.3:c.4908T>GMANE SELECT
NP_001397668.1:p.His1614Gln
NP_056477.1:p.His1636Gln
NC_000002.11:g.27668618A>C
NM_015662.2:c.4908T>G

Protein change:

H1614Q

Links:

dbSNP: rs201840472

NCBI 1000 Genomes Browser:

rs201840472

Molecular consequence:

NM_001168364.2:c.*6-550A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001410739.1:c.4842T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_015662.3:c.4908T>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10)
Identifiers:: MONDO: MONDO:0014284; MedGen: C3810175; Orphanet: 474; OMIM: 615630

Name:: Retinitis pigmentosa 71 (RP71)
Identifiers:: MONDO: MONDO:0014618; MedGen: C4225342; Orphanet: 791; OMIM: 616394

Name:: Bardet-Biedl syndrome 20
Identifiers:: MONDO: MONDO:0023670; MedGen: C4310707; OMIM: 619471

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002816134	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Dec 5, 2021)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004046624	New York Genome Center	criteria provided, single submitter (NYGC Assertion Criteria 2020)	Uncertain significance (Nov 18, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002816134

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Dec 5, 2021)

unknown

clinical testing

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

SCV004046624

New York Genome Center

criteria provided, single submitter

(NYGC Assertion Criteria 2020)

Uncertain significance
(Nov 18, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	1	not provided	not provided	1	not provided	clinical 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, SCV002816134.1

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

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

From New York Genome Center, SCV004046624.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

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

Last Updated: Nov 24, 2024

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