U.S. flag

An official website of the United States government

NM_016069.11(PAM16):c.112C>G (p.Arg38Gly) AND Autosomal recessive spondylometaphyseal dysplasia, Megarbane type

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000709807.1

Allele description [Variation Report for NM_016069.11(PAM16):c.112C>G (p.Arg38Gly)]

NM_016069.11(PAM16):c.112C>G (p.Arg38Gly)

Genes:
CORO7-PAM16:CORO7-PAM16 readthrough [Gene - HGNC]
PAM16:presequence translocase associated motor 16 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_016069.11(PAM16):c.112C>G (p.Arg38Gly)
HGVS:
  • NC_000016.10:g.4341481G>C
  • NG_016391.2:g.31721G>C
  • NG_054893.1:g.14892C>G
  • NM_001201479.2:c.2881C>G
  • NM_016069.11:c.112C>GMANE SELECT
  • NP_001188408.1:p.Arg961Gly
  • NP_057153.8:p.Arg38Gly
  • NC_000016.9:g.4391482G>C
  • NM_016069.9:c.112C>G
Protein change:
R38G
Links:
dbSNP: rs1314983113
NCBI 1000 Genomes Browser:
rs1314983113
Molecular consequence:
  • NM_001201479.2:c.2881C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016069.11:c.112C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal recessive spondylometaphyseal dysplasia, Megarbane type
Synonyms:
Spondylometaphyseal dysplasia, megarbane-dagher-melki type
Identifiers:
MONDO: MONDO:0013223; MedGen: C2750075; Orphanet: 401979; OMIM: 613320

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000840135GenomeConnect, ClinGen
no classification provided
not providedpaternalphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV000840135.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalunknownnot providednot providedvalidationnot providednot providednot providednot provided

Last Updated: Feb 20, 2024