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NM_006261.5(PROP1):c.311G>A (p.Arg104Gln) AND Pituitary hormone deficiency, combined, 2

Germline classification:
Likely benign (1 submission)
Last evaluated:
Apr 20, 2020
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:
RCV001274070.1

Allele description [Variation Report for NM_006261.5(PROP1):c.311G>A (p.Arg104Gln)]

NM_006261.5(PROP1):c.311G>A (p.Arg104Gln)

Gene:
PROP1:PROP paired-like homeobox 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q35.3
Genomic location:
Preferred name:
NM_006261.5(PROP1):c.311G>A (p.Arg104Gln)
HGVS:
  • NC_000005.10:g.177994137C>T
  • NG_015889.1:g.7106G>A
  • NM_006261.5:c.311G>AMANE SELECT
  • NP_006252.3:p.Arg104Gln
  • NP_006252.4:p.Arg104Gln
  • NC_000005.9:g.177421138C>T
  • NM_006261.4:c.311G>A
Protein change:
R104Q
Links:
dbSNP: rs369390421
NCBI 1000 Genomes Browser:
rs369390421
Molecular consequence:
  • NM_006261.5:c.311G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Pituitary hormone deficiency, combined, 2
Synonyms:
Ateliotic dwarfism with hypogonadism; Pituitary dwarfism III; Hanhart dwarfism
Identifiers:
MONDO: MONDO:0009878; MedGen: C0878683; OMIM: 262600

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001457802Natera, Inc.
no assertion criteria provided
Likely benign
(Apr 20, 2020) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001457802.1

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

Last Updated: Sep 29, 2024