NM_006839.3(IMMT):c.510A>T (p.Lys170Asn) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 20, 2022
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:: RCV004180167.1

Allele description [Variation Report for NM_006839.3(IMMT):c.510A>T (p.Lys170Asn)]

NM_006839.3(IMMT):c.510A>T (p.Lys170Asn)

Gene:

IMMT:inner membrane mitochondrial protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p11.2

Genomic location:

Preferred name:

NM_006839.3(IMMT):c.510A>T (p.Lys170Asn)

HGVS:

NC_000002.12:g.86171257T>A
NM_001100169.2:c.510A>T
NM_001100170.2:c.477A>T
NM_001400086.1:c.510A>T
NM_001400087.1:c.510A>T
NM_001400088.1:c.504A>T
NM_001400089.1:c.501A>T
NM_001400090.1:c.501A>T
NM_001400091.1:c.510A>T
NM_001400100.1:c.510A>T
NM_001400101.1:c.510A>T
NM_001400102.1:c.477A>T
NM_001400103.1:c.474A>T
NM_001400104.1:c.474A>T
NM_001400105.1:c.477A>T
NM_001400106.1:c.477A>T
NM_001400107.1:c.471A>T
NM_001400108.1:c.474A>T
NM_001400109.1:c.477A>T
NM_001400110.1:c.477A>T
NM_001400111.1:c.477A>T
NM_001400112.1:c.453A>T
NM_001400113.1:c.510A>T
NM_001400114.1:c.249A>T
NM_001400115.1:c.249A>T
NM_001400116.1:c.477A>T
NM_001400117.1:c.216A>T
NM_001400118.1:c.216A>T
NM_001400119.1:c.216A>T
NM_001400120.1:c.477A>T
NM_001400121.1:c.477A>T
NM_001400122.1:c.477A>T
NM_001400123.1:c.-394A>T
NM_001400124.1:c.-397A>T
NM_001400125.1:c.-394A>T
NM_001400126.1:c.-391A>T
NM_001400127.1:c.-397A>T
NM_001400128.1:c.-397A>T
NM_001400129.1:c.-268A>T
NM_001400130.1:c.-170A>T
NM_001400131.1:c.-299A>T
NM_001400132.1:c.510A>T
NM_001400133.1:c.510A>T
NM_001400134.1:c.477A>T
NM_001400135.1:c.477A>T
NM_001400137.1:c.216A>T
NM_001400138.1:c.-679A>T
NM_001400140.1:c.510A>T
NM_001400142.1:c.510A>T
NM_001400143.1:c.477A>T
NM_001400144.1:c.477A>T
NM_001400145.1:c.474A>T
NM_006839.3:c.510A>TMANE SELECT
NP_001093639.1:p.Lys170Asn
NP_001093640.1:p.Lys159Asn
NP_001387015.1:p.Lys170Asn
NP_001387016.1:p.Lys170Asn
NP_001387017.1:p.Lys168Asn
NP_001387018.1:p.Lys167Asn
NP_001387019.1:p.Lys167Asn
NP_001387020.1:p.Lys170Asn
NP_001387029.1:p.Lys170Asn
NP_001387030.1:p.Lys170Asn
NP_001387031.1:p.Lys159Asn
NP_001387032.1:p.Lys158Asn
NP_001387033.1:p.Lys158Asn
NP_001387034.1:p.Lys159Asn
NP_001387035.1:p.Lys159Asn
NP_001387036.1:p.Lys157Asn
NP_001387037.1:p.Lys158Asn
NP_001387038.1:p.Lys159Asn
NP_001387039.1:p.Lys159Asn
NP_001387040.1:p.Lys159Asn
NP_001387041.1:p.Lys151Asn
NP_001387042.1:p.Lys170Asn
NP_001387043.1:p.Lys83Asn
NP_001387044.1:p.Lys83Asn
NP_001387045.1:p.Lys159Asn
NP_001387046.1:p.Lys72Asn
NP_001387047.1:p.Lys72Asn
NP_001387048.1:p.Lys72Asn
NP_001387049.1:p.Lys159Asn
NP_001387050.1:p.Lys159Asn
NP_001387051.1:p.Lys159Asn
NP_001387061.1:p.Lys170Asn
NP_001387062.1:p.Lys170Asn
NP_001387063.1:p.Lys159Asn
NP_001387064.1:p.Lys159Asn
NP_001387066.1:p.Lys72Asn
NP_001387069.1:p.Lys170Asn
NP_001387071.1:p.Lys170Asn
NP_001387072.1:p.Lys159Asn
NP_001387073.1:p.Lys159Asn
NP_001387074.1:p.Lys158Asn
NP_006830.2:p.Lys170Asn
NC_000002.11:g.86398380T>A
NM_006839.2:c.510A>T
NR_174393.1:n.590A>T
NR_174394.1:n.590A>T
NR_174395.1:n.557A>T
NR_174396.1:n.557A>T
NR_174397.1:n.557A>T
NR_174398.1:n.590A>T
NR_174399.1:n.557A>T
NR_174400.1:n.557A>T
NR_174401.1:n.557A>T
NR_174402.1:n.557A>T

Protein change:

K151N

Molecular consequence:

NM_001400123.1:c.-394A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001400124.1:c.-397A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001400125.1:c.-394A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001400126.1:c.-391A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001400127.1:c.-397A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001400128.1:c.-397A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001400129.1:c.-268A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001400130.1:c.-170A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001400131.1:c.-299A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001400138.1:c.-679A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001100169.2:c.510A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001100170.2:c.477A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001400086.1:c.510A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001400087.1:c.510A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001400088.1:c.504A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001400089.1:c.501A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001400090.1:c.501A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001400091.1:c.510A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001400100.1:c.510A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001400101.1:c.510A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001400102.1:c.477A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001400103.1:c.474A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001400104.1:c.474A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001400105.1:c.477A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001400106.1:c.477A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001400107.1:c.471A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001400108.1:c.474A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001400109.1:c.477A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001400110.1:c.477A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001400111.1:c.477A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001400112.1:c.453A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001400113.1:c.510A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001400114.1:c.249A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001400115.1:c.249A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001400116.1:c.477A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001400117.1:c.216A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001400118.1:c.216A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001400119.1:c.216A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001400120.1:c.477A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001400121.1:c.477A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001400122.1:c.477A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001400132.1:c.510A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001400133.1:c.510A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001400134.1:c.477A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001400135.1:c.477A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001400137.1:c.216A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001400140.1:c.510A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001400142.1:c.510A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001400143.1:c.477A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001400144.1:c.477A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001400145.1:c.474A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_006839.3:c.510A>T - missense variant - [Sequence Ontology: SO:0001583]
NR_174393.1:n.590A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174394.1:n.590A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174395.1:n.557A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174396.1:n.557A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174397.1:n.557A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174398.1:n.590A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174399.1:n.557A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174400.1:n.557A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174401.1:n.557A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_174402.1:n.557A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Prionurus laticlavius zinc finger protein of the cerebellum 1 (zic1) gene, parti...
Prionurus laticlavius zinc finger protein of the cerebellum 1 (zic1) gene, partial cds
gi|478213473|gb|KC623930.1|

Nucleotide
Anthroposophy
Anthroposophy
Knowledge of the nature of man. A spiritual and mystical doctrine that grew out of theosophy and derives mainly from the philosophy of Rudolph Steiner, Austrian social philoso...<br/>Year introduced: 1967(1963)

MeSH
Hinduism
Hinduism
A complex body of social, cultural, and religious beliefs and practices evolved in and largely confined to the Indian subcontinent and marked by a caste system, an outlook ten...<br/>Year introduced: 1995

MeSH
Religion and Medicine
Religion and Medicine
The interrelationship of medicine and religion.<br/>

MeSH
Catholicism
Catholicism
The Christian faith, practice, or system of the Catholic Church, specifically the Roman Catholic, the Christian church that is characterized by a hierarchic structure of bisho...<br/>

MeSH

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003675265	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 20, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003675265

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 20, 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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV003675265.2

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

Description

The c.510A>T (p.K170N) alteration is located in exon 5 (coding exon 5) of the IMMT gene. This alteration results from a A to T substitution at nucleotide position 510, causing the lysine (K) at amino acid position 170 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Oct 13, 2024

ClinVar

Relating variation to medicine